Muscular dystrophy associated with the DMD gene in women ; Мышечная дистрофия, связанная с геном DMD, у женщин

Συγγραφείς: E. O. Vorontsova, A. V. Zinina, O. A. Shchagina, Е. О. Воронцова, Е. В. Зинина, О. А. Щагина

Συνεισφορές: The work was performed without external funding, Работа выполнена без спонсорской поддержки.

Πηγή: Neuromuscular Diseases; Том 14, № 3 (2024); 81-89 ; Нервно-мышечные болезни; Том 14, № 3 (2024); 81-89 ; 2413-0443 ; 2222-8721

Θεματικοί όροι: креатинфосфокиназа, DMD, X-inactivation, cardiomyopathy, limb-girdle muscular dystrophy, creatine phosphokinase, Х-инактивация, кардиомиопатия, поясно-конечностная мышечная дистрофия

Περιγραφή αρχείου: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/622/399; Salari N., Fatahi B., Valipour E. et al. Global prevalence of Duchenne and Becker muscular dystrophy: A systematic review and meta-analysis. J Orthop Surg Res 2022;17:96. DOI:10.1186/s13018-022-02996-8; Keegan N.P. Pseudoexons of the DMD gene. J Neuromuscul Dis 2020;7(2):77–95. DOI:10.3233/JND-190431; Magri F., Govoni A., D’Angelo M.G. et al. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol 2011;258(9):1610–23. DOI:10.1007/s00415-011-5979-z; Bladen C.L., Salgado D., Monges S. et al. The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat 2015;36(4):395–402. DOI:10.1002/humu.22758; Зинина Е.В., Булах М.В., Рыжкова О.П. и др. Изменение спектра выявленных мутаций в гене DMD в зависимости от методических возможностей лаборатории. Нервно-мышечные болезни 2023;13(1):33–43. DOI:10.17650/2222-8721-2023-13-1-33-43; Nakamura A., Shiba N., Miyazaki D. et al. Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy. J Hum Genet 2017;62(4):459–63. DOI:10.1038/jhg.2016.152; Nakamura A., Fueki N., Shiba N. et al. Deletion of exons 3–9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. J Hum Genet 2016;61(7):663–7. DOI:10.1038/jhg.2016.28; Torella A., Zanobio M., Zeuli R. et al. The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene. PLoS One 2020;15(8):e0237803. DOI:10.1371/journal.pone.0237803; Gruber D., Lloyd-Puryear M., Armstrong N. et al. Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. Am J Med Genet C Semin Med Genet 2022;190(2): 197–205. DOI:10.1002/ajmg.c.32000; Soltanzadeh P., Friez M.J., Dunn D. et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010;20(8):499–504. DOI:10.1016/j.nmd.2010.05.010; Heide S., Afenjar A., Edery P. et al. Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature. Eur J Med Genet 2015;58(6–7):341–5. DOI:10.1016/j.ejmg.2015.04.003; Duan D., Goemans N., Takeda S. et al. Duchenne muscular dystrophy. Nat Rev Dis Primers 2021;7(1):13. DOI:10.1038/s41572-021-00248-3; Demos J., Dreyfus J.C., Schapira F. et al. Biological anomalies in the apparently healthy transmitters of muscular dystrophy. Rev Can Biol 1962;21:587–97.; Masárová L., Panovský R., Pešl M. et al. Correction: Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations. Orphanet J Rare Dis 2023;18(1):331. DOI:10.1186/s13023-023-02922-z; Mercier S., Toutain A., Toussaint A. et al. Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. Eur J Hum Genet 2013;21(8):855–63. DOI:10.1038/ejhg.2012.269; Ishizaki M., Kobayashi M., Adachi K. et al. Female dystrophinopathy: Review of current literature. Neuromuscul Disord 2018;28(7):572–81. DOI:10.1016/j.nmd.2018.04.005; Hoogerwaard E.M., Bakker E., Ippel P.F. et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: A cohort study. Lancet 1999; 353(9170):2116–9. DOI:10.1016/s0140-6736(98)10028-4; Schade van Westrum S.M., Hoogerwaard E.M., Dekker L. et al. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. Neurology 2011;77(1):62–6. DOI:10.1212/WNL.0b013e318221ad14; Codd M.B., Sugrue D.D., Gersh B.J. et al. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975–1984. Circulation 1989;80(3):564–72. DOI:10.1161/01.cir.80.3.564; Politano L., Nigro V., Nigro G. et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996;275(17):1335–8.; Mccaffrey T., Guglieri M., Murphy A.P. et al. Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. Muscle Nerve 2017;55(6):810–8. DOI:10.1002/mus.25445; Richardson P., McKenna W., Bristow M. et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996;93(5):841–2. DOI:10.1161/01.cir.93.5.841; Grain L., Cortina-Borja M., Forfar C. et al. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 2001;11(2):186–91. DOI:10.1016/s0960-8966(00)00185-1; Walcher T., Steinbach P., Spiess J. et al. Detection of long-term progression of myocardial fibrosis in Duchenne muscular dystrophy in an affected family: A cardiovascular magnetic resonance study. Eur J Radiol 2011;80(1):115–9. DOI:10.1016/j.ejrad.2010.07.005; Tunteeratum A., Witoonpanich R., Phudhichareonrat S. et al. Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene. J Clin Neuromuscul Dis 2009;11(1):49–53. DOI:10.1097/CND.0b013e3181adcda7; Finsterer J., Stollberger C. Muscle, cardiac, and cerebral manifestations in female carriers of dystrophin variants. J Neurol Sci 2018;388:107, 108. DOI:10.1016/j.jns.2018.03.015; Bushby K., Muntoni F., Bourke J.P. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands. Neuromuscul Disord 2003;13(2):166–72. DOI:10.1016/s0960-8966(02)00213-4; Bourke J., Turner C., Bradlow W. et al. Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations. Open Heart 2022;9(2):e001977. DOI:10.1136/openhrt-2022-001977; Dori A., Scutifero M., Passamano L. et al. Treatment with ataluren of four symptomatic nmDMD carriers. A pilot study. Acta Myol 2024 43(1):8–15. DOI:10.36185/2532-1900-398; D’Ambrosio P., Orsini C., Nigro V. et al. Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report. Acta Myol 2018;37(4):272–4.; Birnkrant D.J., Bushby K., Bann C.M. et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: Respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 2018;17(4):347–61. DOI:10.1016/S1474-4422(18)30025-5; Quak Z.X., Tan S.M.L., Tan K.B. et al. A manifesting female carrier of Duchenne muscular dystrophy: Importance of genetics for the dystrophinopathies. Singapore Med J 2023;64(1):81–7. DOI:10.4103/singaporemedj.SMJ-2021-356; Arikawa E., Hoffman E.P., Kaido M. et al. The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991;41(9):1491–6. DOI:10.1212/wnl.41.9.1491; Richards C.S., Watkins S.C., Hoffman E.P. et al. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 1990;46(4):672–81.; Papa R., Madia F., Bartolomeo D. et al. Genetic and early clinical manifestations of females heterozygous for Duchenne/Becker muscular dystrophy. Pediatr Neurol 2016;55:58–63. DOI:10.1016/j.pediatrneurol.2015.11.004; Viggiano E., Ergoli M., Picillo E. et al. Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. Hum Genet 2016;135(7):685–98. DOI:10.1007/s00439-016-1666-6; Chelly J., Marlhens F., Le Marec B. et al. De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy. Hum Genet 1986;74(2):193–6. DOI:10.1007/BF00282093; Tanner S.M., Orstavik K.H., Kristiansen M. et al. Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. Hum Genet 1999;104(3):249–53. DOI:10.1007/s004390050943; Verellen-Dumoulin C., Freund M., De Meyer R. et al. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet 1984;67(1):115–9. DOI:10.1007/BF00270570; Pluta N., von Moers A., Pechmann A. et al. Whole-genome sequencing identified new structural variations in the DMD gene that cause Duchenne muscular dystrophy in two girls. Int J Mol Sci 2023;24(17):13567. DOI:10.3390/ijms241713567; Quan F., Janas J., Toth-Fejel S. et al. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 1997;60(1):160–5.; Ou Z., Li S., Li Q. et al. Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10). Tohoku J Exp Med 2010;222(2):149–53. DOI:10.1620/tjem.222.149; Fujii K., Minami N., Hayashi Y. et al. Homozygous female Becker muscular dystrophy. Am J Med Genet A 2009;149A(5):1052–5. DOI:10.1002/ajmg.a.32808; Katayama Y., Tran V.K., Hoan N.T. et al. Co-occurrence of mutations in both dystrophin and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. Hum Genet 2006;119(5):516–9. DOI:10.1007/s00439-006-0159-4; Tihy F., Vogt N., Recan D. et al. Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter. Hum Genet 1994;93(5):563–7. DOI:10.1007/BF00202824; Giliberto F., Radic C.P., Luce L. et al. Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization. J Neurol Sci 2014;336(1–2):36–41. DOI:10.1016/j.jns.2013.09.036; Sumita D.R., Vainzof M., Campiotto S. et al. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet 1998;80(4):356–61.; Azofeifa J., Voit T., Hübner C. et al. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: Concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995;96(2):167–76. DOI:10.1007/BF00207374; Bittel D.C., Theodoro M.F., Kibiryeva N. et al. Comparison of X-chromosome inactivation patterns in multiple tissues from human females. J Med Genet 2008;45(5):309–13. DOI:10.1136/jmg.2007.055244; Matthews P.M., Benjamin D., Van Bakel I. et al. Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995;5(3):209–20. DOI:10.1016/0960-8966(94)00057-g; https://nmb.abvpress.ru/jour/article/view/622

Διαθεσιμότητα: https://nmb.abvpress.ru/jour/article/view/622
https://doi.org/10.17650/2222-8721-2024-14-3-81-89

Клинический случай поясно-конечностной дистрофии R12 типа, ANO 5 ; Clinical case of limb-girdle muscular dystrophy of type R12, ANO 5

Συγγραφείς: Silantieva, A. D., Ovsova, O. V., Силантьева, А. Д., Овсова, О. В.

Πηγή: Сборник статей

Θεματικοί όροι: LIMB – GIRDLE MUSCULAR DYSTROPHY, ANO5, CLINICAL CASE, ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, КЛИНИЧЕСКИЙ СЛУЧАЙ

Περιγραφή αρχείου: application/pdf

Relation: Актуальные вопросы современной медицинской науки и здравоохранения: сборник статей VIII Международной научно-практической конференции молодых учёных и студентов, Екатеринбург, 19-20 апреля 2023 г.; http://elib.usma.ru/handle/usma/14335

Διαθεσιμότητα: http://elib.usma.ru/handle/usma/14335

Clinical and genetic characteristics and an algorithm for the differential diagnosis of progressive muscular dystrophies that manifest after a period of normal motor development ; Клинико-генетические характеристики и алгоритм дифференциальной диагностики прогрессирующих мышечных дистрофий, манифестирующих после периода нормального моторного развития

Συγγραφείς: I. V. Sharkova, E. L. Dadali, И. В. Шаркова, Е. Л. Дадали

Συνεισφορές: State budget financing., Государственное бюджетное финансирование.

Πηγή: Neuromuscular Diseases; Том 13, № 1 (2023); 44-51 ; Нервно-мышечные болезни; Том 13, № 1 (2023); 44-51 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2023-13-1

Θεματικοί όροι: миодистрофия Дюшенна/Беккера, progressive muscular dystrophy, limb-girdle muscular dystrophy, oculopharyngeal muscular dystrophy, facial-shoulder-scapular-peroneal muscular dystrophy, distal myopathy, Duchenne/Becker myodystrophy, прогрессирующие мышечные дистрофии, поясно-конечностная мышечная дистрофия, окулофарингеальная мышечная дистрофия, лице-плече-лопаточно-перонеальная миодистрофия, дистальная миопатия

Περιγραφή αρχείου: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/525/342; Emery A.E.H. Seminar: The muscular dystrophies. Lancet 2002;359(9307):687–95. DOI: 1016/S0140-6736(02)07815-7; Sewry C.A. Pathological defects in congenital myopathies. Cell Motil 2008;29:231–8. DOI:10.1007/s10974-008-9155-8; Schorling D., Kirschner J., Bonnemann C.G. Congenital muscular dystrophies and myopathies: an overview and update. Neuropediatrics 2017;48(4):247–61. DOI:10.1055/s-0037-1604154; Muscular dystrophy syndromes. Available at: http://neuromuscular.wustl.edu/musdist/lg.html.; Anderson L.V., Harrison RM, Pogue R. et al. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 2000;10(8);553–55. DOI:10.1016/s0960-8966(00)00143-7; Bushby K.M. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on limb-girdle dystrophies. Neuromuscul Disord 1995(5):71–4. DOI:10.1016/0960-8966(93)e0006-g; Carrie A., Piccolo F., Leturcq F. et al. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997;34:470–5. DOI:10.1136/jmg.34.6.470; Urtasun M., Saenz A., Roudaut C. et al. Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). Brain 1998;121(9):1735–47. DOI:10.1093/brain/121.9.1735; Pogoda T.V., Krakhmaleva I.N., Lipatova N.A. et al. High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia. Hum Mutat 2000;15(3):295. DOI:10.1002/(sici)1098- 1004(200003)15:33.0.co;2-8; Brockington M., Blake D. J., Prandini P. et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan. Am J Hum Gen 2001;69(6):1198–209. DOI:10.1086/324412; De Paula F., Vainzof M., Passos Bueno M.R. et al. Clinical variability in calpainopathy – what makes the difference? Eur J Hum Genet 2002;10:825–32. DOI:10.1038/sj.ejhg.5200888; Poppe M., Cree L., Bourke J. et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 2003;60(8):1246–51. DOI:10.1212/01.wnl.0000058902.88181.3d; Moreira E.S., Vainzof M., Suzuki O.T. et al. Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Genet 2003;40(2):12–20. DOI:10.1136/jmg.40.2.e12; Canki-Klain N., Milic A., Kovac B. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. Am J Med Genet 2004;125(2):152–6. DOI:10.1002/ajmg.a.20408; Walter M.C. FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. J Med Gen 2004;41(4):e50. DOI:10.1136/jmg.2003.013953; Hackman P., Juvonen V., Sarparanta J. et al. Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients. Muscle Nerve 2005;31(2):199–204. DOI:10.1002/mus.20267; Balci B., Aurino S., Haliloglu G. et al. Calpain-3 mutations in Turkey. Eur J Pediatr 2006;165(5):293–8. DOI:10.1007/s00431-005-0046-3; Mercuri E., Topaloglu H., Brockington M. et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol 2006;63:251–7. DOI:10.1001/archneur.63.2.251; Sveen M.L., Schwartz M., Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 2006;59: 808–15. DOI:10.1002/ana.20824; Рыжкова О.П., Билева Д.С., Дадали Е.Л. и др. Клинико-генетические характеристики поясно-конечностной прогрессирующей мышечной дистрофии 2А типа. Медицинская генетика 2010;9(11):3–10.; Trevisan C.P., Pastorello E, Tomelleri G. et al. Genotypephenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase. Hum Mutat 2009. DOI:10.1002/humu; Nallamilli B.R., Ankala A., Hegde M. Molecular diagnosis of Duchenne muscular dystrophy. Curr Protocol Hum Genet 2014;83(9):1–29. DOI:10.1002/0471142905.hg0925s83; Bladen C.L., Salgado D., Monges S. et al. The TREAT-NMD DMD global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat 2015;36(4):395–402. DOI:10.1002/humu.22758; Kumar S.H., Athimoolam K., Suraj M. et al. Comprehensive genetic analysis of 961 unrelated Duchenne muscular dystrophy patients: focus on diagnosis, prevention and therapeutic possibilities. PLoS One 2020;15(6):e0232654. DOI:10.1371/journal.pone.0232654; Rosalki S.B. Serum enzymes in disease of skeletal muscle. Clin Lab Med 1989;9(4):767–81.; Zatz M., Rapaport D., Vainzof M. et al. Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy. J Neurol Sci 1991;102(2):190–6. DOI:10.1016/0022-510x(91)90068-i; Шаркова И.В., Дадали Е.Л., Рыжкова О.П., Евдокименков В.Н. Сравнительный анализ особенностей фенотипов поясноконечностных мышечных дистрофий 2А и 2I типов. Нервно-мышечные болезни 2013;(2):39–44. DOI:10.17650/2222-8721-2015-5-3-42-49; Шаркова И.В., Дадали Е.Л., Угаров И.В. и др. Сравнительный анализ особенностей фенотипов двух распространенных генетических вариантов поясно-конечностной мышечной дистрофии. Нервно-мышечные болезни 2015;5(3):42–9. DOI:10.17650/2222-8721-2015-5-3-42-48; Никитин С.С., Куцев С.И., Басаргина Е.Н. и др. Клинические рекомендации по оказанию медицинской помощи пациентам с болезнью Помпе. Нервно-мышечные болезни 2016;6(1):11–43. DOI:10.17650/2222-8721-2016-6-1-11; Li H., Chen Q., Liu F. et al. Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles. J Hum Genet 2011;56:335–8. DOI:10.1038/jhg.2011.15; Mori-Yoshimura M., Oya Y., Yajima H. et al. GNE myopathy: a prospective natural history study of disease progression. Neuromuscul Disord 2014;24(5):380–6. DOI:10.1016/j.nmd.2014.02.008; Chamova T., Guergueltcheva V., Gospodinova M. et al. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Neuromuscul Disord 2015;25(9):713–8. DOI:10.1016/j.nmd.2015.07.004; Pogoryelova O., Wilson I.J., Mansbach H. et al. GNE genotype explains 20 % of phenotypic variability in GNE myopathy. Neurol Genet 2019;5:e308. DOI:10.1212/NXG.0000000000000308; Park Y.E., Kim D.S., Choi Y.C., Shin J.H. Progression of GNEmyopathy based on the patient-reported outcome. J Clin Neurol 2019;15(3):275–84. DOI:10.3988/jcn.2019.15.3.275; Upadhyaya M., Cooper D.N. Facioscapulohumeral muscular dystrophy: clinical medicine and molecular cell biology. Garland Science/BIOS Scientific, Abingdon Google Scholar 2004. DOI:10.3109/9780203997352.086; Nikolic A., Ricci G., Sera F. et al. Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry. BMJ 2016;6:e007798. DOI:10.1136/bmjopen-2015-007798; Fratter C., Gorman G.S., Stewart J.D. et al. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology 2010;74(20):1619–26. DOI:10.1212/WNL.0b013e3181df099f; Tang S., Wang J., Lee N.-C. et al. Mitochondrial DNA polymerase mutations: an ever expanding molecular and clinical spectrum. J Med Genet 2011;48(10):669–81. DOI:10.1136/jmedgenet-2011-100222; Orsucci D., Angelini C., Bertini E. et al. Revisiting mitochondrial ocular myopathies: a study from the Italian Network. J Neurol 2017;264(8):1777–84. DOI:10.1007/s00415-017-8567-z; Rodriguez-Lopez D., Garcia-Cardaba L.M., Blazquez A. et al. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. J Med Genet 2020;57:643–6. DOI:10.1136/jmedgenet-2019-106649; https://nmb.abvpress.ru/jour/article/view/525

Διαθεσιμότητα: https://nmb.abvpress.ru/jour/article/view/525
https://doi.org/10.17650/2222-8721-2023-13-1-44-51

Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case ; Причины ложной диагностики полимиозита у пациентов с дисферлинопатией: клинический случай

Συγγραφείς: S. N. Bardakov, A. М. Emelin, S. S. Nikitin, A. N. Khelkovskaya-Sergeeva, I. S. Limaev, A. F. Murtazina, V. A. Tsargush, M. V. Gusev, Ya. V. Safronova, V. S. Kaimonov, A. A. Isaev, R. V. Deev, С. Н. Бардаков, А. М. Емелин, С. С. Никитин, А. Н. Хелковская-Сергеева, И. С. Лимаев, А. Ф. Муртазина, В. А. Царгуш, М. В. Гусева, Я. В. Сафронова, В. С. Каймонов, А. А. Исаев, Р. В. Деев

Συνεισφορές: The funding for this study was provided by the Ministry of Science and Higher Education of Russia (agreement No. 075-15-2021-1346)., Исследование выполнено при финансовой поддержке Минобрнауки России (соглашение № 075-15-2021-1346).

Πηγή: Neuromuscular Diseases; Том 12, № 4 (2022); 73-87 ; Нервно-мышечные болезни; Том 12, № 4 (2022); 73-87 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2022-12-4

Θεματικοί όροι: иммуносупрессия, limb‑girdle muscular dystrophy R2, DYSF gene, inflammatory myopathies, polymyositis, immunosuppression, поясно‑конечностная мышечная дистрофия R2, ген DYSF, воспалительные миопатии, полимиозит

Περιγραφή αρχείου: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/510/336; Mammen A.L. Which nonautoimmune myopathies are most frequently misdiagnosed as myositis? Curr Op Rheumatol 2017;29:618–22. DOI:10.1097/bor.0000000000000441; Barp A., Bellance R., Malfatti E. et al. Late onset multiple AcylCoA dehydrogenase deficiency (MADD) myopathy misdiagnosed as polymyositis. J Clin Rhetum 020;26:e125–e127. DOI:10.1097/rhu.0000000000001000; Xu C., Chen J., Zhang Y., Li J. Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review. Medicine 2018;97:e10539. DOI:10.1097/md.0000000000010539; Fanin M., Angelini C. Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol 2002;28:461–70. DOI:10.1046/j.1365-2990.2002.00417.x; Loureiro Amigo J., Gallardo E., Gallano P., Grau-Junyent J.M. Dysferlinopathy masquerading as a refractory polymyositis. Med Clin 2015;145:414–5. DOI:10.1016/j.medcli.2014.12.009; Benveniste O., Romero N.B. Myositis or dystrophy? Traps and pitfalls. Presse Medicale 2011;40:e249–55. DOI:10.1016/j.lpm.2010.11.023; Tang J., Song X., Ji G. et al. A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy. Neuropathology 2018. DOI:10.1111/neup.12474; Ceccon G., Lehmann H.C., Neuen-Jacob E. et al. Therapyresistant polymyositis – is the diagnosis correct? Zeitschrift fur Rheumatologie 2017;76:640–3. DOI:10.1007/s00393-017-0326-0; Griger Z., Nagy-Vincze M., Bodoki L. et al. Late onset dysferlinopathy mimicking treatment resistant polymyositis. Joint, Bone, Spine 2016;83:355, 356. DOI:10.1016/j.jbspin.2015.03.017; Jethwa H., Jacques T.S., Gunny R. et al. Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. Pediatr Rheumatol Online J 2013;11:19. DOI:10.1186/1546-0096-11-19; Dalakas M.C. Muscle biopsy findings in inflammatory myopathies. Rheum Dis Clin North Am 2002;28:779–98. DOI:10.1016/s0889-857x(02)00030-3; Dalakas M.C., Hohlfeld R. Polymyositis and dermatomyositis. Lancet 2003;362:971–82. DOI:10.1016/s0140-6736(03)14368-1; Gallardo E., Rojas-García R., de Luna N. et al. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001;57:2136–8. DOI:10.1212/wnl.57.11.2136; Nguyen K., Bassez G., Krahn M. et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007;64:1176–82. DOI:10.1001/archneur.64.8.1176; Vinit J., Samson M., Jr., Gaultier J.B. et al. Dysferlin deficiency treated like refractory polymyositis. Clin Rheumatol 2010;29: 103–6. DOI:10.1007/s10067-009-1273-1; Fitzsimons R.B. Facioscapulohumeral dystrophy: the role of inflammation. Lancet 1994;344:902, 903. DOI:10.1016/s0140-6736(94)92263-2; Arahata K., Ishihara T., Fukunaga H. et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve Suppl 1995:S56–66.; Statland J.M., Shah B., Henderson D. et al. Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. Muscle Nerve 2015;52:521–6. DOI:10.1002/mus.24621; Darin N., Kroksmark A.K., Ahlander A.C. et al. Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I. Eur J Paediatric Neurol 2007;11:353–7. DOI:10.1016/j.ejpn.2007.02.018; Krahn M., Goicoechea M., Hanisch F. et al. Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? Clin Genet 2011;80: 398–402. DOI:10.1111/j.1399-0004.2010.01620.x; Moraitis E., Foley A.R., Pilkington C.A. et al. Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy. J Rheumatol 2015;42:1064–6. DOI:10.3899/jrheum.140554; Marago I., Roberts M., Roncaroli F. et al. Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis. Rheumatology 2021. DOI:10.1093/rheumatology/keab553; Hilton-Jones D. Myositis mimics: how to recognize them. Curr Opin Rheumatol 2014;26:663–70. DOI:10.1097/bor.0000000000000101; Hoffman E.P., Rao D., Pachman L.M. Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays. Rheum Dis Clin North Am 2002;28:743–57. DOI:10.1016/s0889-857x(02)00031-5; Mastaglia F.L. When the treatment does not work: polymyositis. Pract Neurol 2008;8:170–4. DOI:10.1136/jnnp.2007.142562; Angelini C., Peterle E., Gaiani A. et al. Dysferlinopathy course and sportive activity: clues for possible treatment. Acta Myologica 2011;30:127–32.; Scalco R.S., Lorenzoni P.J., Lynch D.S. et al. Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? Am J Case Rep 2017;18:17–21. DOI:10.12659/ajcr.900970; Marie I., Hatron P.Y., Levesque H. et al. Influence of age on characteristics of polymyositis and dermatomyositis in adults. Medicine 1999;78:139–47. DOI:10.1097/00005792-199905000-00001; Lynn S.J., Sawyers S.M., Moller P.W. et al. Adult-onset inflammatory myopathy: North Canterbury experience 1989–2001. Intern Med J 2005;35:170–3. DOI:10.1111/j.1445-5994.2004.00764.x; Umakhanova Z.R., Bardakov S.N., Mavlikeev M.O. et al. Twentyyear clinical progression of dysferlinopathy in patients from Dagestan. Front Neurol 2017;8:77. DOI:10.3389/fneur.2017.00077; Ueyama H., Kumamoto T., Horinouchi H. et al. Clinical heterogeneity in dysferlinopathy. Intern Med 2002;41:532–6. DOI:10.2169/internalmedicine.41.532; Paradas C., Gonzalez-Quereda L., De Luna N. et al. A new phenotype of dysferlinopathy with congenital onset. Neuromusc Disord 2009;19:21–5. DOI:10.1016/j.nmd.2008.09.015; Klinge L., Dean A.F., Kress W. et al. Late onset in dysferlinopathy widens the clinical spectrum. Neuromusc Disord 2008;18:288–90. DOI:10.1016/j.nmd.2008.01.004; Angelini C., Grisold W., Nigro V. Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis. Acta Myol 2011;30:185–7.; Li F., Yin G., Xie Q., Shi G. Late-onset dysferlinopathy presented as “liver enzyme” abnormalities: a technical note. J Clin Rheumatol 2014;20:275–7. DOI:10.1097/rhu.0000000000000126; Pradhan S. Diamond on quadriceps: A frequent sign in dysferlinopathy. Neurology 2008;70(4):322. DOI:10.1212/01.wnl.0000298091.07609.a0; Rowin J., Meriggioli M.N., Cochran E.J., Sanders D.B. Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy. Neuromusc Disord 1999;9:417–20. DOI:10.1016/s0960-8966(99)00041-3; Austin S.G., Pappolla M.A., Dimachkie M., Vriesendorp F.J. A confusing case of Miyoshi distal myopathy. Muscle Nerve 1995;18:922, 923.; Pimentel L.H., Alcantara R.N., Fontenele S.M. et al. Limb-girdle muscular dystrophy type 2B mimicking polymyositis. Arq Neuropsiquiatr 2008;66:80–82. DOI:10.1590/s0004-282x2008000100019; Moore U.R., Jacobs M., Fernandez-Torron R. et al. Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. J Neurol Neurosurg Psychiatr 2018;89:1224–6. DOI:10.1136/jnnp-2017-317329; Moore U., Jacobs M., Fernandez-Torron R. et al. Intensive teenage activity is associated with greater muscle hyperintensity on T1W magnetic resonance imaging in adults with dysferlinopathy. Front Neurol 2020;11:613446. DOI:10.3389/fneur.2020.613446; Mahjneh I., Marconi G., Bushby K. et al. Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. Neuromusc Disord 2001;11:20–6. DOI:10.1016/s0960-8966(00)00157-7; Cupler E.J., Bohlega S., Hessler R. et al. Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromusc Disord 1998;8:321–6. DOI:10.1016/s0960-8966(98)00026-1; Galassi G., Rowland L.P., Hays A.P. et al. High serum levels of creatine kinase: asymptomatic prelude to distal myopathy. Muscle Nerve 1987;10:346–50. DOI:10.1002/mus.880100411; Argov Z., Sadeh M., Mazor K. et al. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain 2000;123(Pt 6):1229–37. DOI:10.1093/brain/123.6.1229; Prelle A., Sciacco M., Tancredi L. et al. Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency. Acta Neuropathol 2003;105:537–42. DOI:10.1007/s00401-002-0654-1; Suzuki N., Aoki M., Takahashi T. et al. Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy. Muscle Nerve 2004;29:721–23. DOI:10.1002/mus.20025; Okahashi S., Ogawa G., Suzuki M. et al. Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. Intern Med 008;47:305–7. DOI:10.2169/internalmedicine.47.0519; Kobayashi Y., Takahashi T., Sumi H. et al. A case of dysferlinopathy asymptomatic for 10 years after an episode of transient muscle weakness. Clin Neurol 2012;52:495–8. DOI:10.5692/clinicalneurol.52.495; Xi J., Blandin G., Lu J. et al. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy. Neurol India 2014;62:635–9. DOI:10.4103/0028-3886.149386; Aasen T., Achdjian H., Usta Y., Nanda R. Dysferlin-deficient muscular dystrophy identified through laboratory testing for elevated aminotransferases. ACG Case Rep J 2016;3:127–9. DOI:10.14309/crj.2016.22; Kulkantrakorn K., Sangruchi T. Discordant manifestation in brothers with Miyoshi myopathy. J Neurol Sci 2017;373:86, 87. DOI:10.1016/j.jns.2016.12.032; Cho H.J., Sung D.H., Kim E.J. et al. Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. J Korean Med Sci 2006;21: 724–7. DOI:10.3346/jkms.2006.21.4.724; Selva-O’Callaghan A., Labrador-Horrillo M., Gallardo E. et al. Muscle inflammation, autoimmune Addison’s disease and sarcoidosis in a patient with dysferlin deficiency. Neuromusc Disord 2006;16:208, 209. DOI:10.1016/j.nmd.2006.01.005; Rider L.G., Ruperto N., Pistorio A. et al. 2016 ACR-EULAR adult dermatomyositis and polymyositis and juvenile dermatomyositis response criteria-methodological aspects. Rheumatology 2017;56:1884–93. DOI:10.1093/rheumatology/kex226; Sasaki H., Kohsaka H. Current diagnosis and treatment of polymyositis and dermatomyositis. Modern Rheumatol 2018;28:913–21. DOI:10.1080/14397595.2018.1467257; Mantegazza R., Bernasconi P., Confalonieri P., Cornelio F. Inflammatory myopathies and systemic disorders: a review of immunopathogenetic mechanisms and clinical features. J Neurol 1997;244:277–87. DOI:10.1007/s004150050087; Findlay A.R., Goyal N.A., Mozaffar T. An overview of polymyositis and dermatomyositis. Muscle Nerve 2015;51:638–56. DOI:10.1002/mus.24566; Greenberg S.A. Inflammatory myopathies: evaluation and management. Semin Neurol 2008;28:241–9. DOI:10.1055/s-2008-1062267; Choi J.H., Park Y.E., Kim S.I. et al. Differential immunohistological features of inflammatory myopathies and dysferlinopathy. J Korean Med Sci 2009;24:1015–23. DOI:10.3346/jkms.2009.24.6.1015; Fanin M., Angelini C. Progress and challenges in diagnosis of dysferlinopathy. Muscle Nerve 2016;54:821–35. DOI:10.1002/mus.25367; Kishi T., Warren-Hicks W., Bayat N. et al. Corticosteroid discontinuation, complete clinical response and remission in juvenile dermatomyositis. Rheumatology 2021;60:2134–45. DOI:10.1093/rheumatology/keaa371; Schnabel A., Hellmich B., Gross W.L. Interstitial lung disease in polymyositis and dermatomyositis. Curr Rheumatol Rep 2005;7:99–105. DOI:10.1007/s11926-005-0061-4; Brüss M., Homann J., Molderings G.J. Dysferlinopathy as an extrahepatic cause for the elevation of serum transaminases. Medizinische Klinik 2004;99:326–9. DOI:10.1007/s00063-004-1046-1; Ukichi T., Yoshida K., Matsushima S. et al. MRI of skeletal muscles in patients with idiopathic inflammatory myopathies: characteristic findings and diagnostic performance in dermatomyositis. RMD Open 2019;5:e000850. DOI:10.1136/rmdopen-2018-000850; Jin S., Du J., Wang Z. et al. Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy. Muscle Nerve 2016;54:1072–9. DOI:10.1002/mus.25207; Kubínová K., Dejthevaporn R., Mann H. et al. The role of imaging in evaluating patients with idiopathic inflammatory myopathies. Clin Exp Rheumatol 2018;36(Suppl 114):74–81.; Bardakov S.N., Tsargush V.A., Carlier P.G. et al. Magnetic resonance imaging pattern variability in dysferlinopathy. Acta Myol 2021;40:158–71. DOI:10.36185/2532-1900-059; Prayson R.A. Diagnostic yield associated with multiple simultaneous skeletal muscle biopsies. Am J Clin Pathol 2006;126:843–8. DOI:10.1309/78b3m0tgjyt4ruum; Rosales X.Q., Gastier-Foster J.M., Lewis S. et al. Novel diagnostic features of dysferlinopathies. Muscle Nerve 2010;42:14–21. DOI:10.1002/mus.21650; Yoshida K. Morphological study of muscle fibers stained red by modified Gomori trichrome staining with special reference to smooth red fibers. Hokkaido J Med Sci 1997;72:163–80.; De Girolami U., Nachmanoff D., Specht L. Diseases of skeletal muscle. Neuropathology 1997:717–63.; Confalonieri P., Oliva L., Andreetta F. et al. Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. J Neuroimmunol 2003;142:130–6. DOI:10.1016/s0165-5728(03)00255-8; Yin X., Wang Q., Chen T. et al. CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. Intern J Clin Experiment Pathol 2015;8:3069–75.; Gherardi R.K. Pathogenic aspects of dermatomyositis, polymyositis and overlap myositis. La Presse Médicale 2011;40(4):e209–e218. DOI:10.1016/j.lpm.2010.12.013; Van der Pas J., Hengstman G.J., ter Laak H.J. et al. Diagnostic value of MHC class I staining in idiopathic inflammatory myopathies. J Neurol Neurosurg Psychiatr 2004;75:136–9.; Selcen D., Stilling G., Engel A.G. The earliest pathologic alterations in dysferlinopathy. Neurology 2001;56:1472–81. DOI:10.1212/wnl.56.11.1472; Spuler S., Engel A.G. Unexpected sarcolemmal complement membrane attack complex deposits on nonnecrotic muscle fibers in muscular dystrophies. Neurology 1998;50:41–6. DOI:10.1212/wnl.50.1.41; Piccolo F., Moore S.A., Ford G.C., Campbell K.P. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb – girdle muscular dystrophies. Ann Neurol 2000;48:902–12.; Lerario A., Cogiamanian F., Marchesi C. et al. Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy. BMC Musc Dis 2010;11:157. DOI:10.1186/1471-2474-11-157; Cenacchi G., Fanin M., De Giorgi L.B., Angelini C. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J Clin Pathol 2005;58:190–5. DOI:10.1136/jcp.2004.018978; Bansal D., Miyake K., Vogel S.S. et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003;423:168–72. DOI:10.1038/nature01573; Azzam A., Jiyad Z., O’Beirne J. Is methotrexate hepatotoxicity associated with cumulative dose? A systematic review and meta-analysis. Austr J Dermatol 2021;62:130–40. DOI:10.1111/ajd.13546; https://nmb.abvpress.ru/jour/article/view/510

Διαθεσιμότητα: https://nmb.abvpress.ru/jour/article/view/510
https://doi.org/10.17650/2222-8721-2022-12-4-73-87

Comparison of T2 MSME and STIR methods in assessment of muscle emergency changes in patients with LGMD R2 ; Сравнение методик T2 MSME и STIR при оценке отечных изменений мышц у пациентов с ПКМДR2

Συγγραφείς: V. A. Tsargush, S. N. Bardakov, P. Calier, S. S. Bagnenko, I. S. Zheleznyak, А. А. Емельянцев, M. S. Pushkin, R. V. Deev, А. А. Isaev, В. А. Царгуш, С. Н. Бардаков, П. Карлиер, С. С. Багненко, И. С. Железняк, М. С. Пушкин, Р. В. Деев, А. А. Исаев

Πηγή: Diagnostic radiology and radiotherapy; Том 12, № 2 (2021); 41-48 ; Лучевая диагностика и терапия; Том 12, № 2 (2021); 41-48 ; 2079-5343

Θεματικοί όροι: отечные изменения мышц, limb-girdle muscular dystrophy 2B, limb-girdle muscular dystrophy R2, DYSF, muscle MRI, STIR, muscle edematous changes, поясно-конечностная мышечная дистрофия 2В, ПКМД R2, МРТ мышц

Περιγραφή αρχείου: application/pdf

Relation: https://radiag.bmoc-spb.ru/jour/article/view/621/483; Anderson L.V., Davison K., Moss J.A., Young C., Cullen M.J., Walsh J. et al. Dysferlin is a plasma membrane protein and is expressed early in human development // Ш. 1999. Vol. 8, No. 5. Р. 855–861.; Bushby K.M. Dysferlin and muscular dystrophy // Acta neurologica Belgica. 2000. Vol. 100, No. 3. Р. 142–145.; Krahn M., Goicoechea M., Hanisch F., Groen E., Bartoli M., Pécheux C. et al. Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? // Clinical genetics. 2011. Vol. 80, No. 4. Р. 398–402. doi:10.1111/j.1399-0004.2010.01620.x.; Tasca G., Monforte M., Corbi M., Granata G., Lucchetti D., Sgambato A. et al. Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy // Molecular neurobiology. 2018. Vol. 55, No. 4. Р. 2959–2966.; Rosenberg A.S., Puig M., Nagaraju K., Hoffman E.P., Villalta S.A., Rao V.A. et al. Immune-mediated pathology in Duchenne muscular dystrophy // Science translational medicine. 2015. Vol. 7, No. 299. Р. 299rv4. doi:10.1126/scitranslmed.aaa7322.; Diaz-Manera J., Fernandez-Torron R., J.L.L., James M.K., Mayhew A., Smith F.E. et al. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials // Journal of neurology, neurosurgery, and psychiatry. 2018. Vol. 89, No. 10. Р. 1071–1081. doi:10.1136/jnnp-2017-317488.; Jin S., Du J., Wang Z., Zhang W., Lv H., Meng L. et al. Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy // Muscle & nerve. 2016. Vol. 54, No. 6. Р. 1072–1079. doi:10.1002/mus.25207.; Diaz J., Woudt L., Suazo L., Garrido C., Caviedes P. et al. Broadening the imaging phenotype of dysferlinopathy at different disease stages // Muscle & nerve. 2016. Vol. 54, No. 2. Р. 203–210. doi:10.1002/mus.25045.; Yushkevich P.A., Piven J., Hazlett H.C., Smith R.G., Ho S., Gee J.C. et al. User-guided 3D active contour segmentation of anatomical structures: significantly improved efficiency and reliability // NeuroImage. 2006. Vol. 31, No. 3. Р. 1116–1128. doi:10.1016/j.neuroimage.2006.01.015.; Jethwa H., Jacques T.S., Gunny R., Wedderburn L.R., Pilkington C., Manzur A.Y. Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report // Pediatr. Rheumatol. Online J. 2013. Vol. 11, No. 1. Р. 19. doi:10.1186/1546-0096-11-19.; Scalco RS., Lorenzoni PJ., Lynch DS., Martins WA., Jungbluth H., Quinlivan R. et al. Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? // The American journal of case reports. 2017. Vol. 18. Р. 17–21. doi:10.12659/ajcr.900970.; Tang J., Song X., Ji G., Wu H., Sun S., Lu S. et al. A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy // Neuropathology: official journal of the Japanese Society of Neuropathology. 2018. doi:10.1111/neup.12474.; Kesper K., Kornblum C., Reimann J., Lutterbey G., Schroder R., Wattjes M.P. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study // Acta neurologica Scandinavica. 2009. Vol. 120, No. 2. Р. 111–118. doi:10.1111/j.1600-0404.2008.01129.x.; Paradas C., Llauger J., Diaz-Manera J., Rojas-Garcia R., De Luna N., Iturriaga C. et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies // Neurology. 2010. Vol. 75, No. 4. Р. 316– 23.doi:10.1212/WNL.0b013e3181ea1564.; Angelini C., Peterle E., Gaiani A., Bortolussi L., Borsato C. Dysferlinopathy course and sportive activity: clues for possible treatment // Acta myologica: myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 2011. Vol. 30, No. 2. Р. 127–132.; Arrigoni F., De Luca A., Velardo D., Magri F., Gandossini S., Russo A. et al. Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B // Muscle & nerve. 2018. Vol. 58, No. 4. Р. 550–558. doi:10.1002/mus.26189.; Diaz-Manera J., Llauger J., Gallardo E., Illa I. Muscle MRI in muscular dystrophies // Acta myologica: myopathies and cardiomyopathies: official journal of the Mediterranean Society of Myology. 2015. Vol. 34, No. 2–3. Р. 95–108.; Okahashi S., Ogawa G., Suzuki M., Ogata K., Nishino I., Kawai M. Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT // Internal medicine (Tokyo, Japan). 2008. Vol. 47, No. 4. Р. 305– 307. doi:10.2169/internalmedicine.47.0519.; Paradas C., Gonzalez-Quereda L., De Luna N., Gallardo E., GarciaConsuegra I., Gomez H., et al. A new phenotype of dysferlinopathy with congenital onset // Neuromuscular disorders: NMD. 2009. Vol. 19, No. 1. Р. 21– 25. doi:10.1016/j.nmd.2008.09.015.; Ten Dam L., van der Kooi A.J., Verhamme C., Wattjes M.P., de Visser M. Muscle imaging in inherited and acquired muscle diseases // European journal of neurology. 2016. Vol. 23, No. 4. Р. 688–703. doi:10.1111/ene.12984.; Castro T.C., Lederman H., Terreri M.T., Caldana W.I., Zanoteli E., Hilario M.O. Whole-body magnetic resonance imaging in the assessment of muscular involvement in juvenile dermatomyositis/polymyositis patients // Scandinavian journal of rheumatology. 2014. Vol. 43, No. 4. Р. 329–333. doi:10.3109/03009742.2013.868509.; Malattia C., Damasio M.B., Madeo A., Pistorio A., Providenti A., Pederzoli S. et al. Whole-body MRI in the assessment of disease activity in juvenile dermatomyositis // Annals of the rheumatic diseases. 2014. Vol. 73, No. 6. Р. 1083–90. doi:10.1136/annrheumdis-2012-202915.; Ukichi T., Yoshida K., Matsushima S., Kawakami G., Noda K., Furuya K. et al. MRI of skeletal muscles in patients with idiopathic inflammatory myopathies: characteristic findings and diagnostic performance in dermatomyositis // RMD open. 2019. Vol. 5, No. 1. Р. e000850. doi:10.1136/rmdopen-2018-000850.; Yang S.H., Chang C., Lian Z.X. Polymyositis and dermatomyositis — challenges in diagnosis and management // Journal of translational autoimmunity. 2019. Vol. 2. 100018. doi:10.1016/j.jtauto.2019.100018.; Miranda S.S., Alvarenga D., Rodrigues J.C., Shinjo SK. [Different aspects of magnetic resonance imaging of muscles between dermatomyositis and polymyositis] // Revista brasileira de reumatologia. 2014. Vol. 54, No. 4. Р. 295–300. doi:10.1016/j.rbr.2014.04.004.

Διαθεσιμότητα: https://radiag.bmoc-spb.ru/jour/article/view/621
https://doi.org/10.22328/2079-5343-2021-12-2-41-48

MRI pattern changes in pelvic muscle and lower limb in patients with dysferlinopathy ; Магнитно-резонансный паттерн изменений мышц тазового пояса и нижних конечностей у пациентов с дисферлинопатиями

Συγγραφείς: V. A. Tsargush, S. N. Bardakov, S. S. Bagnenko, I. S. Zheleznyak, Z. R. Umakhanova, P. G. Akhmedova, R. M. Magomedova, K. U. Mollaeva, K. Z. Zulfugarov, A. A. Emelyantsev, E. N. Chernets, I. A. Yakovlev, G. D. Dalgatov, A. A. Isaev, R. V. Deev, В. А. Царгуш, С. Н. Бардаков, С. С. Багненко, И. С. Железняк, З. Р. Умаханова, П. Г. Ахмедова, Р. М. Магомедова, К. Ю. Моллаева, К. З. Зульфугаров, А. А. Емельянцев, Е. Н. Чернец, И. А. Яковлев, Г. Д. Далгатов, А. А. Исаев, Р. В. Деев

Συνεισφορές: Выражаем благодарность заведующей лабораторией «GeneticO» (г. Москва) Е. А. Померанцевой и ее сотрудникам.

Πηγή: Diagnostic radiology and radiotherapy; Том 11, № 1 (2020); 93-105 ; Лучевая диагностика и терапия; Том 11, № 1 (2020); 93-105 ; 2079-5343 ; 10.22328/2079-5343-2020-1

Θεματικοί όροι: МР-паттерн дисферлинопатий, Limb-girdle muscular dystrophy R2, DYSF, myopathy, muscle MRI, MRI pattern of dysferlinopathy, поясно-конечностная мышечная дистрофия R2, миопатия, МРТ мышц

Περιγραφή αρχείου: application/pdf

Relation: https://radiag.bmoc-spb.ru/jour/article/view/478/382; Anderson L.V. et al. Dysferlin is a plasma membrane protein and is expressed early in human development // Hum. Mol. Genet. 1999. Vol. 8 (5). Р. 855–861. DOI:10.1093/hmg/8.5.855.; Bushby K.M. Dysferlin and muscular dystrophy // Acta Neurol. Belg. 2000. Vol. 100 (3). Р. 142–145. PMID: 11098285.; Carter J.C. et al. Muscular Dystrophies // Clin Chest Med. 2018. Vol. 39 (2). Р. 377–389. DOI:10.1016/j.ccm.2018.01.004.; Straub V., Carlier P.G., Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25–26 February 2011, Rome, Italy // Neuromuscul. Disord. 2012. Vol. 22, Suppl 2. Р. S42–53. DOI:10.1016/j.nmd.2012.08.002.; Ten Dam L. et al. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies // Neuromuscul. Disord. 2014. Vol. 24 (12). Р. 1097–1102. DOI:10.1016/j.nmd.2014.07.004.; Fatehi F. et al. Dysferlinopathy in Iran: Clinical and genetic report // J. Neurol. Sci. 2015. Vol. 359 (1–2). Р. 256–259. DOI:10.1016/j.jns.2015.11.009.; Зуев А.А. и др. Возможности клинико-лучевой диагностики наследственных миопатий // Функциональная диагностика. 2007. № 14 (4). С. 64–73.; Труфанов Г.Е. и др. Методика МРТ исследований костно-мышечной системы // Актуальные вопросы лучевой диагностики заболеваний и повреждений у военнослужащих. СПб., 2001. С. 144–145.; Mercuri E. et al. A short protocol for muscle MRI in children with muscular dystrophies // Eur. J. Paediatr. Neurol. 2002. Vol. 6 (6). Р. 305–307. DOI:10.1016/s1090–3798(02)90617–3.; Yushkevich P.A. et al. User-guided 3D active contour segmentation of anatomical structures: significantly improved efficiency and reliability // Neuroimage. 2006. Vol. 31 (3). Р. 1116–1128. DOI:10.1016/j.neuroimage.2006.01.015.; Moore U.R. et al. Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study // J. Neurol. Neurosurg Psychiatry. 2018. Vol. 89 (11). Р. 1224–1226. DOI:10.1136/jnnp-2017-317329.; Moody S., Mancias P. Dysferlinopathy presenting as rhabdomyolysis and acute renal failure // J. Child Neurol. 2013. Vol. 28 (4). Р. 502–505. DOI:10.1177/0883073812444607.; Xu C. et al. Limb-girdle muscular dystrophy type 2B misdiagnosed as polymyositis at the early stage: Case report and literature review // Medicine (Baltimore). 2018. Vol. 97 (21). Р. e10539. DOI:10.1097/MD.0000000000010539.; Scalco R.S. et al. Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? // Am. J. Case Rep. 2017. Vol. 18. Р. 17–21. DOI:10.12659/ajcr.900970.; Mercuri E. et al. Muscle MRI in inherited neuromuscular disorders: past, present, and future // J. Magn Reson Imaging. 2007. Vol. 25 (2). Р. 433–440. DOI:10.1002/jmri.20804.; Diaz-Manera J. et al. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials // J. Neurol. Neurosurg Psychiatry. 2018. Vol. 89 (10). Р. 1071–1081. DOI:10.1136/jnnp-2017–317488.; Umakhanova, Z.R. et al. Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan // Front Neurol. 2017. Vol. 8. Р. 77. DOI:10.3389/fneur.2017.00077.; Carlier P.G. et al. Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials // J. Neuromuscul. Dis. 2016. Vol. 3 (1). Р. 1–28. DOI:10.3233/JND-160145.; Diaz-Manera J. et al. Muscle MRI in muscular dystrophies // Acta Myol. 2015. Vol. 34 (2–3). Р. 95–108. DOI:10.3233/JND-160145.; Arrigoni F. et al. Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B // Muscle Nerve. 2018. Vol. 58 (4). Р. 550–558. DOI:10.1002/mus.26189.; Wattjes M.P., Kley R.A., Fischer D. Neuromuscular imaging in inherited muscle diseases // Eur. Radiol. 2010. Vol. 20 (10). Р. 2447–2460. DOI:10.1007/s00330-010-1799-2.; Kesper K. et al. Pattern of skeletal muscle involvement in primary dysferlinopathy: a whole-body 3.0-T magnetic resonance imaging study // Acta Neurol. Scand. 2009. Vol. 120 (2). Р. 111–118. DOI:10.1111/j.16000404.2008.01129.x.; Takahashi T. et al. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B // J. Neurol. Neurosurg Psychiatry. 2013. Vol. 84 (4). Р. 433–440. DOI:10.1136/jnnp-2011-301339.; Jin S. et al. Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy // Muscle Nerve. 2016. Vol. 54 (6). Р. 10721079. DOI:10.1002/mus.25207.; Kim H.K. et al. Analysis of fatty infiltration and inflammation of the pelvic and thigh muscles in boys with Duchenne muscular dystrophy (DMD): grading of disease involvement on MR imaging and correlation with clinical assessments // Pediatr. Radiol. 2013. Vol. 43 (10). Р. 1327–1335. DOI:10.1007/s00247013-2696-z.; Diaz J. et al. Broadening the imaging phenotype of dysferlinopathy at different disease stages // Muscle Nerve. 2016. Vol. 54 (2). Р. 203–210. DOI:10.1002/mus.25045.; Okahashi S. et al. Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT // Intern. Med. 2008. Vol. 47 (4). Р. 305–307. DOI:10.2169/internalmedicine.47.0519.; Paradas C. et al. A new phenotype of dysferlinopathy with congenital onset // Neuromuscul. Disord. 2009. Vol. 19 (1). Р. 21–25. DOI:10.1016/j.nmd.2008.09.015.; Jethwa H. et al. Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report // Pediatr. Rheumatol. Online J. 2013. Vol. 11 (1). Р. 19. DOI:10.1186/1546-0096-11-19.

Διαθεσιμότητα: https://radiag.bmoc-spb.ru/jour/article/view/478
https://doi.org/10.22328/2079-5343-2020-11-1-93-105

Clinical examination of patients with late-onset Pompe disease: typical and not typical symptoms and signs ; Клинический осмотр пациентов при болезни Помпе с поздним началом: типичные и нетипичные симптомы и признаки

Συγγραφείς: S. S. Nikitin, С. С. Никитин

Πηγή: Neuromuscular Diseases; Том 9, № 4 (2019); 26-33 ; Нервно-мышечные болезни; Том 9, № 4 (2019); 26-33 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2019-9-4

Θεματικοί όροι: гиперкреатинкиназемия, late onset Pompe disease, Pompe disease presentation, limb-girdle myodystrophy, myopathy, aneurysms, hypercreatine kinasemia, болезнь Помпе с поздним началом, симптомы болезни Помпе, поясно-конечностная мышечная дистрофия, миопатия, аневризма

Περιγραφή αρχείου: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/350/249; Mechtler T.P., Stary S., Metz T.F. et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 2012;379(9813):335–41. PMID: 22133539. DOI:10.1016/S0140-6736(11)61266-X.; Dasouki M., Jawdat O., Almadhoun O. et al. Pompe disease: literature review and case series. Neurol Clin 2014;32:751. PMID: 25037089. DOI:10.1016/j.ncl.2014.04.010.; Toscano A., Rodolico C., Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med 2019;7(13):284–95. PMID: 31392196. DOI:10.21037/atm.2019.07.24.; Theadom A., Rodrigues M., Poke G. et al. A nationwide, population-based prevalence study of genetic muscle disorders. Neuroepidemiology 2019; 52(3–4):128–35. PMID: 30661069. DOI:10.1159/000494115.; Никитин С.С., Ковальчук М.О., Захарова Е.Ю., Цивилева В.В. Нервно-мышечные болезни 2014;1:62–8. DOI:10.17650/2222-8721-2014-0-1-62-68.; van der Beek N. A.M.E., de Vries J.M., Hagemans M.L.C. et al. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 2012;7:88–103. PMID: 23147228. DOI:10.1186/1750-1172-7-88.; Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8:267–88. PMID: 16702877. DOI:10.1097/01.gim.0000218152.87434.f3.; Müller-Felber W., Horvath R., Gempel K. et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term followup in 18 patients. Neuromuscul Disord 2007:17:698–706. PMID: 17643989. DOI:10.1016/j.nmd.2007.06.002.; Güngör D., Schober A.K., Kruijshaar M.E. et al. Pain in adult patients with Pompe disease: a cross-sectional survey. Mol Genet Metab 2013;109:371–6. PMID: 23849261. DOI:10.1016/j.ymgme.2013.05.021.; Gesquière-Dando A., Attarian S., Maues De P.A. et al. Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of lateonset Pompe disease. Muscle Nerve 2015;52(2):300–4. PMID: 25703594. DOI:10.1002/mus.24618.; Никитин С.С., Курбатов С.А., Бределев В.А., Ковальчук М.О. Настораживающие признаки и симптомы в ранней диагностике болезни Помпе с поздним началом: клиника превыше всего. Журнал неврологии и психи атрии 2015;12:19–24. DOI:10.17116/jneurol201511511219-24.; Pichiecchio A., Uggetti C., Ravaglia S. et al. Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord 2004;14(1):51–5. PMID: 14659413. DOI:10.1016/j.nmd.2003.08.003.; Alejaldre A., Díaz-Manera J., Ravaglia S. et al. Trunk muscle involvement in lateonset Pompe disease: study of thirty patients. Neuromuscul Disord 2012;22(2):S148–54. PMID: 22980766. DOI:10.1016/j.nmd.2012.05.011.; Figueroa-Bonaparte S., Segovia S., Llauger J. et al. Muscle MRI findings in childhood/adult onset Pompe disease correlate with muscle function. PLoS One 2016;11(10):e0163493. PMID: 27711114. DOI:10.1371/journal.pone.0163493.; Taisne N., Desnuelle C., Juntas Morales R. et al. Bent spine syndrome as the initial symptom of late-onset Pompe disease. Muscle Nerve 2017;56(1):167–70. PMID: 27862019. DOI:10.1002/mus.25478.; Gaeta M., Barca E., Ruggeri P. et al. Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. Mol Genet Metab 2013;110:290–6. PMID: 23916420. DOI:10.1016/j.ymgme.2013.06.023.; Spiesshoefer J., Henke C., Kabitz H.J. et al. The nature of respiratory muscle weakness in patients with late-onset Pompe disease. Neuromuscul Disord 2019;29(8):618–27. PMID: 31327549. DOI:10.1016/j.nmd.2019.06.011.; Berger K.I., Chan Y., Rom W.N. et al. Progression from respiratory dysfunction to failure in late-onset Pompe disease. Neuromuscul Disord 2016;26:481–9. PMID: 27297666. DOI:10.1016/j.nmd.2016.05.018.; Johnson E.M., Roberts M., Mozaffar T. et al. Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in lateonset Pompe disease. Neuromuscul Disord 2016;26(2):136–45. PMID: 26794303. DOI:10.1016/j.nmd.2015.11.009.; Dubrovsky A., Corderi J., Lin M. et al. Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation. Muscle Nerve 2011;44(6):897–901. PMID: 21953123. DOI:10.1002/mus.222027.; Carlier R.Y., Laforet P., Wary C. et al. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. Neuromuscul Disord 2011;21(11):791–9. PMID: 21803581. DOI:10.1016/j.nmd.2011.06.748.; Jones H.N., Crisp K.D., Asrani P. et al. Quantitative assessment of lingual strength in late-onset Pompe disease. Muscle Nerve 2015;51(5):731–5. PMID: 25399907. DOI:10.1002/mus.24523.; Brignol T.N., Urtizveria J.A. Болезнь Помпе и офтальмопатия: обзор литературы. Нервно-мышечные болезни 2015;1:19–24. DOI:10.17650/2222-8721-2015-1-19-24.; Groen W.B., Leen W.G., Vos A.M. et al. Ptosis as a feature of late-onset glycogenosis type II. Neurology 2006;67(12):2261–2. PMID: 17190962. DOI:10.1212/01.wnl.0000249183.39952.3e.; Kretzschmar H.A., Wagner H., Hübner G. et al. Aneurysms and vacuolar degeneration of cerebral arteries in lateonset acid maltase deficiency. J Neurol Sci 1990;98(2–3):169–83. PMID: 2243227. DOI:10.1016/0022-510x(90)90258-o.; Refai D., Lev R., Cross D.T. et al. Thrombotic complications of a basilar artery aneurysm in a young adult with Pompe disease. Surg Neurol 2008;70(5):518–20. PMID: 18207222. DOI:10.1016/j.surneu.2007.05.049.; Zhang B., Zhao Y., Liu J. et al. Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report. Neuropsychiatr Dis Treat. 2016;12:713–7. PMID: 27099502. DOI:10.2147/NDT.S94892.; Filosto M., Todeschini A., Cotelli M.S. et al. Non-muscle involvement in lateonset glycogenosis II. Acta Myol 2013;32(2):91–4. PMID: 24399865.; Laforêt P., Petiot P., Nicolino M. et al. Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 2008;70(22):2063–6. PMID: 18505979. DOI:10.1212/01.wnl.0000313367.09469.13.; Goeber V., Banz Y., Kaeberich A.et al. Huge aneurysm of the ascending aorta in a patient with adult-type Pompe’s disease: histological findings mimicking fibrillinopathy. Eur J Cardiothorac Surg 2013;43(1):193–5. PMID: 22945242. DOI:10.1093/ejcts/ezs489.; Chan J., Desai A.K., Kazi Z.B. et al. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Mol Genet Metab 2017;120:163–72. DOI:10.1016/j.ymgme.2016.12.004.; Tabarki B., Mahdhaoui A., Yacoub M. et al. Familial hypertrophic cardiomyopathy associated with Wolff– Parkinson–White syndrome revealing type II glycogenosis. Arch Pediatr 2002;9(7):697–700. PMID: 12162158. DOI:10.1016/s0929-693x(01)00968-x.; van der Beek N.A., Soliman O.I., van Capelle C.I. et al. Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities. J Neurol Sci 2008;275(1–2):46–50. PMID: 18757064 DOI:10.1016/j.jns.2008.07.013.; Alandy-Dy J., Wencel M., Hall K. et al. Variable clinical features and genotypephenotype correlations in 18 patients with late-onset Pompe disease. Ann Transl Med 2019;7(13):276. PMID: 31392188 PMID: 31392188. DOI:10.21037/atm.2019.06.48.; Roberts M., Kishnani P.S., van der Ploeg A.T. et al. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab 2011;104(4):574–82. PMID: 21930409. DOI:10.1016/j.ymgme.2011.08.01111.; Panosyan F.B., Fitzpatrick M.F., Bolton C.F. Late onset Pompe disease mimicking rigid spine syndrome. Can J Neurol Sci 2014;41(2):286–9. PMID: 24534049. DOI:10.1017/s0317167100016760.; Bernstein D.L., Bialer M.G., Mehta L. et al. Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab 2010;101(2–3):130–3. PMID: 20638881. DOI:10.1016/j.ymgme.2010.06.003.; Hanisch F., Rahne T., Plontke S.K. Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences. Int J Audiol 2013;52(12):816–23. PMID: 2416085412. DOI:10.3109/14992027.2013.840932.; McNamara E.R., Austin S., Case L. et al. Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease. JIMD Rep 2015;20:5–10. PMID: 25614307. DOI:10.1007/8904_2014_381.; Karabul N., Skudlarek A., Berndt J. et al. Urge incontinence and gastrointestinal symptoms in adult patients with Pompe disease: a cross-sectional survey. JIMD Rep 2014;17:53–61. PMID: 25155777. DOI:10.1007/8904_2014_334.; Remiche G., Herbaut A.G., Ronchi D. et al. Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur Neurol 2012;68(2):75–8. PMID: 22760201. DOI:10.1159/000338776.; Forsha D., Li J.S., Smith P.B. et al. Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy. Genet Med 2011;13:625–31. PMID: 21543987. DOI:10.1097/GIM.0b013e3182142966.; Angelini C., Semplicini C., Ravaglia S. et al. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol 2012;259(5):952–8. PMID: 22081099. DOI:10.1007/s00415-011-6293-5.; Mori M., Bailey L.A., Estrada J. et al. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with LateOnset Pompe Disease: a case report. JIMD Rep 2017;31:79–83. PMID: 27142047. DOI:10.1007/8904_2016_563.; van der Beek N.A., Verschuure H., Reuser A.J.J. et al. Hearing in adults with Pompe disease. J Inherit Metab Dis 2012;35:335–41. PMID: 22002441. DOI:10.21037/atm.2019.06.48.; Alandy-Dy J., Wencel M., Hall K. et al. Variable clinical features and genotypephenotype correlations in 18 patients with late-onset Pompe disease. Ann Transl Med 2019;7(13):276. PMID: 31392188. DOI:10.21037/atm.2019.06.48.; Musumeci O., Catalano N., Barca E. et al. Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients. Mol Genet Metab 2012;107:480–4. PMID: 22958975. DOI:10.1016/j.ymgme.2012.07.024.; Finsterer J., Wanschitz J., Quasthoff S. et al. Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease. Acta Neurol Scand 2017;136(6):558–69. PMID: 28295152. DOI:10.1111/ane.12758.; Origuchi Y., Itai Y., Matsumoto S. et al. Quantitative histological study of the sural nerve in a child with acid maltase deficiency(glycogenosis type II). Pediatr Neurol 1986;2:346–9.; Fidziańska A., Ługowska A., Tylki-Szymańska A. Late form of Pompe disease with glycogen storage in peripheral nerves axons. J Neurol Sci 2011;15: 301(1–2):59–62. PMID: 21109266. DOI:10.1016/j.jns.2010.10.031.; Hobson-Webb L.D., Austin S.L., Jain S. et al. Small-fiber neuropathy in Pompe disease: first reported cases and prospective screening of a clinic cohort. Am J Case Rep 2015;16:196–201. PMID: 25835646. DOI:10.12659/AJCR.893309.; Tsai L.K., Hwu W.L., Lee N.C. et al. Clinical features of Pompe disease with motor neuronopathy. Neuromuscul Disord 2019;9(11):903–6. PMID: 31706699. DOI:10.1016/j.nmd.2019.09.011.; Lamartine S., Monteiro M., Remiche G. Late-onset Pompe disease associated with polyneuropathy. Neuromuscul Disord 2019;29(12):968–72. PMID: 31676142. DOI:10.1016/j.nmd.2019.08.016.; Никитин С.С. Бессимптомная гиперкреатинкиназемия в клинике нейромышечных болезней. Неврологический журнал 2015;20(5):26–33.; Finsterer J., Scorza F.A., Scorza C.A. Significance of Asymptomatic Hyper Creatine-Kinase Emia. J Clin Neuromuscul Dis 2019;41(2):90–102. PMID: 31743252. DOI:10.1097/CND.0000000000000269.; Gutiérrez-Rivas E,. Bautista J., Vílchez J.J. et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a spanish cohort. Neuromuscul Disord 2015;25(7):548–53. PMID: 25998610. DOI:10.1016/j.nmd.2015.04.008.; Preisler N., Lukacs Z., Vinge L. et al. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Gen Metab 2013;109:171–3. PMID: 24011652. DOI:10.1016/j.ymgme.2013.08.005.; Савостьянов К.В., Никитин С.С., Карпачёва К.Е. Лабораторные исследования и болезнь Помпе: от подозрения до мониторинга терапии. Нервномышечные болезни 2016;6(1):54–62. DOI:10.17650/2222-8721-2016-6-1-54-62.; Winchester B., Bali D., Bodamer O.A. et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab 2008;93(3):275–81. PMID: 18078773. DOI:10.1016/j.ymgme.2007.09.006.; Lindberg C., Anderson B., Engvall M. et al. Search for Pompe disease among patients with undetermined myopathies. Acta Neurol Scand 2016;133(2):131–5. PMID: 26190396. DOI:10.1111/ane.12460.; https://nmb.abvpress.ru/jour/article/view/350

Διαθεσιμότητα: https://nmb.abvpress.ru/jour/article/view/350
https://doi.org/10.17650/2222-8721-2019-9-4-26-33

The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage ; Клинический случай поясно-конечностной мышечной дистрофии 2Q, ассоциированной с миастеническим синдромом и поражением легких

Συγγραφείς: S. N. Bardakov, R. V. Deev, M. O. Mavlikeev, Z. R. Umakhanova, P. G. Akhmedova, R. M. Magomedova, K. Z. Zulfugarov, V. A. Tsargush, I. A. Chekmareva, I. A. Yakovlev, G. D. Dalgatov, G. I. Yakubovsky, A. A. Isaev, С. Н. Бардаков, Р. В. Деев, М. О. Мавликеев, З. Р. Умаханова, П. Г. Ахмедова, Р. М. Магомедова, К. З. Зульфугаров, В. А. Царгуш, И. А. Чекмарева, И. А. Яковлев, Г. Д. Далгатов, Г. И. Якубовский, А. А. Исаев

Συνεισφορές: This work was funded by a grant from the Russian Science Foundation (14-15-00916). Rabbit anti-pectin antiserum was kindly provided by Professor Dr. Gerhard Wiech (Vienna, Austria). Our gratitude to the head of the laboratory “GeneticO” (Moscow) E.A. Pomerantseva and her staff, Работа финансирована грантом Российского научного фонда (14-15-00916). Кроличья анти-плектин антисыворотка была любезно предоставлена профессором доктором Герхардом Вихом (Вена, Австрия). Выражаем благодарность заведующей лабораторией “GeneticO” (г. Москва) Е.А. Померанцевой и ее сотрудникам

Πηγή: Neuromuscular Diseases; Том 9, № 3 (2019); 40-55 ; Нервно-мышечные болезни; Том 9, № 3 (2019); 40-55 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2019-9-3

Θεματικοί όροι: мышечные дистрофии, limb-girdle muscle dystrophy 2Q, PLEC gene, PLEC 1f isoform, whole-exome sequencing, hypercreatinephos-phatemia, myopathy, myasthenic syndrome, non-infection bronchiolitis, muscular dystrophies, поясно-конечностная мышечная дистрофия 2Q, ген PLEC, изоформа плектина 1f полноэкзомное секвенирование, гиперкреатинфосфатемия, миопатия, миастенический синдром, неинфекционный бронхиолит

Περιγραφή αρχείου: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/343/245; Winter L., Wiche G. The many faces of plectin and plectinopathies: pathology and mechanisms. Acta Neuropathol 2013;125(1):77—93. DOI:10.1007/s00401-012-1026-0. PMID: 22864774.; Winter L., Staszewska I., Mihailovska E. et al. Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle. J Clin Invest 2014;124(3):1144— 57. DOI:10.1172/JCI71919. PMID: 24487589.; Rezniczek G.A., Winter L., Wafko G., Wiche G. Functional and Genetic Analysis of Plectin in Skin and Muscle. Methods Enzymol 2016;569:235-59. DOI:10.1016/bs.mie.2015.05.003. PMID: 26778562.; Gostynska K.B., Lemmink H., Bremer J. et al. A PLEC Isoform Identified in Skin, Muscle, and Heart. J Invest Dermatol 2017;137(2):518—22. DOI:10.1016/j.jid.2016.09.032. PMID: 27769846.; Uniprot. URL https://www.uniprot.org/uniprot/Q15149.; Castanon M.J., Walko G., Winter L., Wiche G. Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve. Histochem Cell Biol 2013;140(1):33—53. DOI:10.1007/s00418-013-1102-0. PMID: 23748243.; Winter L., Kuznetsov A.V., Grimm M. et al. Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle. Hum Mol Genet 2015;24(16):4530—44. DOI:10.1093/hmg/ddv184. PMID: 26019234.; Winter L., Turk M., Harter P.N. et al. Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. Acta Neuropathol Commun 2016;4(1):44. DOI:10.1186/s40478-016-0314-7. PMID: 27121971.; Wiche G., Krepler R., Artlieb U. et al. Identification of plectin in different human cell types and immunolocalization at epithelial basal cell surface membranes. Exp Cell Res 1984;155(1):43—9. DOI:10.1016/0014-4827(84)90766-3. PMID: 6386498.; Rezniczek G.A., Konieczny P., Nikolicet B. et al. Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan. J Cell Biol 2007;176(7):965—77. DOI:10.1083/jcb.200604179. PMID: 17389230.; Johnson M.A., Polgar J., Weightman D., Appleton D. Data on the distribution of fibre types in thirty-six human muscles. An autopsy study. J Neurol Sci 1973;18(1):111—29. DOI:10.1016/0022-510x(73)90023-3. PMID: 4120482.; Gundesli H., Cirak S., Dincer P. Pitfall of identifying a disease locus by using low-resolution SNP arrays. J Mol Genet Med 2011;5:264-5. DOI:10.4172/1747-0862.1000047. PMID: 22190979.; Fattahi Z., Kahrizi K., Nafissi S. et al. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. Arch Iran Med 2015;18(1):60—4. DOI: 0151801/AIM.0014. PMID: 25556389.; Takawira D., Scott Budinger G.R., Hopkinson S.B., Jones J.C.R. A dystroglycan/plectin scaffold mediates mechanical pathway bifurcation in lung epithelial cells. J Biol Chem 2011;286(8):6301—10. DOI:10.1074/jbc.M110.178988. PMID: 21149456.; Bonni A., Brunet A., West A.E. et al. Cell survival promoted by the Ras-MAPK signaling pathway by transcription-dependent and -independent mechanisms. Science 1999;286(5443):1358—62. DOI:10.1126/science.286.5443.1358.; Budinger G.R., Urich D., DeBiase P.J. et al. Stretch-induced activation of AMP kinase in the lung requires dystroglycan. Am J Respir Cell Mol Biol 2008;39(6):666—72. DOI:10.1165/rcmb.2007-0432OC. PMID: 18556591.; Eisenberg J.L., Beaumont K.G., Takawira D. et al. Plectin-containing, centrally localized focal adhesions exert traction forces in primary lung epithelial cells. J Cell Sci 2013;126(Pt16):3746—55. DOI:10.1242/jcs.128975. PMID: 23750011.; Babic I., Karaman-Ilic M., Pustisek N. et al. Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report. Int J Pediatr Otorhinolaryngol 2010;74(3):302—5. DOI:10.1016/j.ijporl.2009.10.002. PMID: 20044146.; Mihailovska E., Raith M., Valencia R.G. et al. Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes. Mol Biol Cell 2014;25(25):4130—49. DOI:10.1091/mbc.E14-06-1174. PMID: 25318670.; Gundesli H., Talim B., Korkusuz P. et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet 2010;87(6):834—41. DOI:10.1016/j.ajhg.2010.10.017. PMID: 21109228.; Forrest K., Mellerio J.E., Robb S. et al. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord 2010;20(11):709—11. DOI:10.1016/j.nmd.2010.06.003. PMID: 20624679.; Banwell B.L., Russel J., Fukudome T. et al. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 1999;58(8):832—46. DOI:10.1097/00005072-199908000-00006. PMID: 10446808.; Selcen D., Juel V.C., Hobson-Webb L.D. et al. Myasthenic syndrome caused by plectinopathy. Neurology 2011;76(4):327—36. DOI:10.1212/WNL.0b013e31820882bd. PMID: 21263134.; Bolling M.C., Pas H.H., de Visser M. et al. PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. J Invest Dermatol 2010;130(4):1178—81. DOI:10.1038/jid.2009.390. PMID: 20016501.; Celik C., Uysal H., Heper A.O., Karaoglan B. Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement. J Clin Neuromuscul Dis 2005;6(4):157—61. DOI:10.1097/01.cnd.0000159779.32828.e7. PMID: 19078768.; Villa C.R., Ryan T.D., Collins J.J. et al. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Neuromuscul Disord 2015;25(2):165—8. DOI:10.1016/j.nmd.2014.09.011. PMID: 25454730.; Andra K., Lassmann H., Bittner R. et al. Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes 1997;11(23):3143— 56. DOI:10.1101/gad.11.23.3143. PMID: 9389647.; Osmanagic-Myers S., Rus S., Wolfram M. et al. Plectin reinforces vascular integrity by mediating crosstalk between the vimentin and the actin networks. J Cell Sci 2015;128(22):4138—50. DOI:10.1242/jcs.172056. PMID: 26519478.; https://nmb.abvpress.ru/jour/article/view/343

Διαθεσιμότητα: https://nmb.abvpress.ru/jour/article/view/343
https://doi.org/10.17650/2222-8721-2019-9-3-40-55

Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan ; Отсутствие настороженности – основной фактор поздней диагностики гликогеноза 2-го типа в Республике Казахстан

Συγγραφείς: L. A. Kuzina, G. S. Kaishibayeva, Л. А. Кузина, Г. С. Кайшибаева

Πηγή: Neuromuscular Diseases; Том 8, № 1 (2018); 53-58 ; Нервно-мышечные болезни; Том 8, № 1 (2018); 53-58 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2018-8-1

Θεματικοί όροι: кислая α-глюкозидаза, limp-girdle muscular dystrophy, acid α-glucosidase, поясно-конечностная мышечная дистрофия

Περιγραφή αρχείου: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/264/198; Никитин С.С., Ковальчук М.О., Захарова Е.Ю., Цивилева В.В. Болезнь Помпе с поздним началом: первое клиническое описание в России. Нервно-мышечные болезни 2014;(1):62–8. DOI: http://dx.doi. org/10.17650/2222-8721-2014-0-1-62-68.; Клюшников С.А., Загоровская Т.Б., Курбатов С.А. и др. Клинический случай болезни Помпе с поздним началом. Нервные болезни 2015;(2):38–43.; Курбатов С.А., Никитин С.С., Захарова Е.Ю. Болезнь Помпе с поздним началом c фенотипом поясно-конечностной миодистрофии. Нервно-мышечные болезни 2015;(3):62–7. DOI:10.17650/2222- 8721-2015-5-3-62-68.; Nikitin S.S., Kovalchuk M.O., Proskurina E.A., Khoroshaya I.V. First case of late-onset glycogen storage disease type II in Russia with a novel mutation. J Neuromuscul Dis 2015;2(s1):S26. DOI 10.3233/JND-159024. PMID: 27858622.; Ünver O., Hacıfazlıoğlu N.E., Karatoprak E. et al. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: a multicenter study. Neuromuscul Disord 2016;26(11):796–800. DOI:10.1016/j.nmd.2016.09.001. PMID: 27666774.; Lukacs Z., Nieves Cobos P., Wenninger S. et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016;87(3):295–8. DOI:10.1212/ WNL.0000000000002758. PMID: 27170567.; Никитин С.С. Бессимптомная гиперкреатинкиназемия в клинике нервно- мышечных болезней. Неврологический журнал 2015;20(5):26–33.; Patwa H.S., Chaudhry V., Katzberg H. et al. Evidence-based guideline: intravenous immunoglobulin in the treatment of neuromuscular disorders: report of the Therapeutics and Technology Assessment Subcommittee of the American Academy of Neurology. Neurology 2012;78(13): 1009–15. DOI:10.1212/ WNL.0b013e31824de293. PMID: 22454268.; Güngör D., Schober A.K., Kruijshaar M.A. et al. Pain in adult patients with Pompe disease. A cross-sectional survey. Mol Genet Metab 2013;109(4):371–6. DOI:10.1016/j. ymgme.2013.05.021. PMID: 23849261.; Carlier R.Y., Laforet P., Wary C. et al. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord 2011;21(11):791–9. DOI:10.1016/j. nmd.2011.06.748. PMID: 21803581.; Lollert A., Stihl C., Hötker A.M. et al. Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy. PLoS One 2018;13(1):e0190784. DOI:10.1371/journal.pone.0190784. PMID: 29315315.; Bertoldo F., Zappini F., Brigo M. et al. Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease. J Clin Endocrinol Metab 2015;100(2):401–6. DOI:10.1210/jc.2014-2763. PMID: 25396301.; Chu Y.P., Sheng B., Lau K.K. et al. Clinical manifestation of late onset Pompe disease patients in Hong Kong. Neuromuscul Disord 2016;26(12):873–9. DOI:10.1016/j. nmd.2016.09.004. PMID: 27692865.; Toscano A., Montagnese F., Musumeci O. Early is better? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD). Acta Myol 2013;32(2):78–81. PMID: 24399862.; Arslan A., Poyrazoğlu H.G., Kiraz A. et al. Combination of two different homozygote mutations in Pompe disease. Pediatr Int 2016;58(3):241–3. DOI:10.1111/ ped.12873. PMID: 26946079.; Никитин С.С., Курбатов С.А., Бределев В.А., Ковальчук М.О. Настораживающие признаки и симптомы в ранней диагностике болезни Помпе c поздним началом: клиника превыше всего. Журнал неврологии и психиатрии им. С.С. Корсакова 2015;115(12):19–24. DOI:10.17116/jnevro201511511219-24.; Никитин С.С., Куцев С.И., Басаргина Е.Н. и др. Клинические рекомендации по оказанию медицинской помощи пациентам с болезнью Помпе. Нервно- мышечные болезни 2016;(1):11–43.; Савостьянов К.В., Никитин С.С., Карпачёва К.Е. Лабораторные исследования и болезнь Помпе: от подозрения до мониторинга терапии. Нервно-мышечные болезни 2016;6(1):54–62. DOI:10.17650/2222-8721-2016-6-1.; Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8(5):267–88. DOI:10.109701.gim.0000218152.87434.f3. PMID: 16702877; https://nmb.abvpress.ru/jour/article/view/264

Διαθεσιμότητα: https://nmb.abvpress.ru/jour/article/view/264
https://doi.org/10.17650/2222-8721-2018-8-1-53-58

THE CASE OF ERB-ROTH’S NEUROMUSCULAR DISTROPHY ; СЛУЧАЙ МИОПАТИИ ЭРБА-РОТА

Συγγραφείς: A. N. Lobanova, M. M. Petrova, E. I. Harkov, N. U. Tsibulskaya, А. Н. Лобанова, М. М. Петрова, Е. И. Харьков, Н. Ю. Цибульская

Πηγή: Complex Issues of Cardiovascular Diseases; Том 7, № 1 (2018); 102-104 ; Комплексные проблемы сердечно-сосудистых заболеваний; Том 7, № 1 (2018); 102-104 ; 2587-9537 ; 2306-1278 ; 10.17802/2306-1278-2018-7-1

Θεματικοί όροι: кардиомиопатия, limb-girdle muscular dystrophy, cardiomyopathy, поясно-конечностная мышечная дистрофия

Περιγραφή αρχείου: application/pdf

Relation: https://www.nii-kpssz.com/jour/article/view/400/317; Шаркова И.В., Дадали Е.Л., Угаров И.В., Рыжкова О.П., Поляков А.В. Сравнительныйанализособенностейфенотиповдвухраспространенных генетических вариантов поясно-конечностной мышечной дистрофии. Нервно-мышечные болезни 2015; 5: 42-48.; Angelini C., Nardetto L., Fanin M., Nascimbeni A-C., Tasca E. Heterogeneous pathogenesis of LGMD2: consequences for therapy. Basic applied mycology. 2007; 17: 173-179.; Дадали Е.Л., Шагина О.А., Рыжкова О.П., Руденская Г.Е., Федотов В.П., Поляков А.В. Клинико-генетические характеристики поясно-конечностной мышечной дистрофии 2А типа. Журнал неврологии и психиатрии им. С.С. Корсакова. 2010; 4: 79-83.; Страхова О.С., Белозеров Ю.М. Особенности лечения кардиомиопатий у больных с прогрессирующей мышечной дистрофией. Педиатрическая фармакология, 2003; 2: 61-64.

Διαθεσιμότητα: https://www.nii-kpssz.com/jour/article/view/400
https://doi.org/10.17802/2306-1278-2018-7-1-102-104

Cardiac involvement in children with neuro-muscular disorders ; Поражения сердца при нервно-мышечных заболеваниях у детей

Συγγραφείς: E. N. Arkhipova, Е. Н. Архипова

Πηγή: Neuromuscular Diseases; Том 5, № 4 (2015); 10-15 ; Нервно-мышечные болезни; Том 5, № 4 (2015); 10-15 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2015-5-4

Θεματικοί όροι: внезапная кардиальная смерть, Duchenne muscular dystrophy, myotonic dystrophy type 1, limb-girdle muscular dystrophy, Emery–Dreifuss muscular dystrophy, dilated cardiomyopathy, ventricular arrhythmias, atrial fibrillations, atrioventricular conduction abnormalities, intraventricular conduction abnormalities, sudden cardiac death, мышечная дистрофия Дюшенна, миотоническая дистрофия 1-го и 2-го типов, поясно-конечностная мышечная дистрофия, мышечная дистрофия Эмери–Дрейфуса, дилатационная кардиомиопатия, желудочковая аритмия, фибрилляция предсердия, нарушение атриовентрикулярной проводимости, нарушение внутрижелудочковой проводимости

Time: 2

Περιγραφή αρχείου: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/127/122; Barp A., Bello L., Politano L. et al. Genetic modifiers of Duchenne muscular dystrophy and dilated cardiomyopathy. PLoS One 2015;10(10):1–14.; Ferlini A., Sewry C., Melis M.A. et al. X-linked dilated cardiomyopathy and the dystrophin gene. Neuromuscul Disord 1999;9:339–46.; Jefferies J.L., Eidem B.W., Belmont J.W. et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 2005;112:2799–804.; Manzur A.Y., Muntoni F. Diagnosis and new treatments in muscular dystrophies. J Neurol Neurosurg Psychiatry 2009;80: 706–14.; Lodi R., Hart P.E., Rajagopalan B. et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich’s ataxia. Ann Neurol 2001;49(5):590–6.; Holaska J.M. Emerin and the nuclear lamina in muscle and cardiac disease. Circ Res 2008;103:16–23.; English K.M., Gibbs J.L. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol 2006;48:231–5.; Babuty D., Fauchier L., Tena-Carbi D. et al. It is possible to identify infrahissian cardiac conduction abnormalities in myotonic dystrophy by non-invasive methods? Heartt 1999;82:634–7.; Bhakta D., Lowe M.R., Groh W.J. Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J 2004;147:224–7.; Melacini P., Buja G., Fasoli G. et al. The natural history of cardiac involvement in myotonic dystrophy: an eight-year followup in 17 patients. Clin Cardiol 1988; 11:231–8.; Stollberger C., Winkler-Dworak M., Blazek G., Finsterer J. Association of electrocardiographic abnormalities with cardiac findings and neuromuscular disorders in left ventricular hypertrabeculation/non-compaction. Cardiology 2007;107:374–9.; Mertens L., Ganame J., Claus P. et al. Early regional myocardial dysfunction in young patients with Duchenne muscular dystrophy. J Am Soc Echocardiogr 2008;21:1049–54.; Silva M.C., Meira Z.M., Gurgel Giannetti J. et al. Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy. J Am Coll Cardiol 2007;49:1874–9.; Kazanegra R., Cheng V., Garcia A. et al. A rapid test for B-type natriuretic peptide correlates with falling wedge pressures in patients treated for decompensated heart failure: a pilot study J Card Fail 2001;7(1):21–9.; Remme W.J., Swedberg K. Guidelines for the diagnosis and treatment of chronic heart fealure. Task force for the diagnosis and treatment of chronic heart fealure, European Society of cardiology. Eur Heart J 2001;22(17):1527–60.; Verhaert D., Richards K., Rafael-Fortney J.A. Cardiac involvement in patients with muscular dystrophies. Magnetic imaging phenotype and genotypic considerations. Circ Cardiovasc Imaging 2011;4(1):67–76.; Архипова Е.Н., Родионова Т.В., Басаргина Е.Н. и др. Закономерности изменения содержания NT-proBNP в крови и их диагностическая значимость у детей с хронической сердечной недостаточностью. Вопросы диагностики в педиатрии. 2012;4(3):11–6. [Аrkhipovа Е.N., Rodionovа Т.V., Basargina Е.N. et al. Common factors of the change of NT-proBNP content in blood and its diagnostic value at children with chronic cardiac failure. Voprosy diagnostiki v pediatrii = Diagnostic Issues in Pediatrics 2012;4(3):11–6. (In Russ.)].; Ishikawa K. Cardiac involvement in progressive muscular dystrophy of the Duchenne type. Jpn Heart J 1997;38:163–80.; Thrush P.T., Allen H.D., Viollet L., Mendell J.R. Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy. Am J Cardiol 2009;103:262–5.; Kirchmann C., Kececioglu D., Korinthenberg R., Dittrich S. Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr Cardiol 2005;26:66–72.; Klitzner T.S., Beekman R., Galioto F.M. et al. Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 2005;116: 1569–73.; Muntoni F. Cardiac complications of childhood myopathies. J Child Neurol 2003;18:191–202.; Bunse M., Bit-Avragim N., Riefflin A. et al. Cardiac energetics correlates to myocardial hypertrophy in Friedreich’s ataxia. Ann Neurol 2003;53(1):121–3.; Finsterer J., Stollberger C. Neuromuscular disorders associated with apical hypertrophic cardiomyopathy. Acta Cardiol 2009;64:85–9.; Басаргина Е.Н., Архипова Е.Н., Жарова О.П. Типичные ошибки при лечении хронической сердечной недостаточности со сниженной систолической функцией у детей. Фарматека 2014;(1): 55–62. [Basargina E.N., Arkhipova E.N., Zharova O.P. Typical errors in the treatment of chronic cardiac failure with diminished systolic function in children. Farmateka = Pharmatec 2014;(1):55–62. (In Russ.)].; Connuck D.M., Sleeper L.A., Colan S.D. et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J 2008;155:998–1005.; Duboc D., Meune C., Pierre B. et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years’ followup. Am Heart J 2007;154: 596–602.; Rhodes J., Margossian R., Darras B.T. et al. Safety and efficacy of carvedilol therapy for patients with dilated cardiomyopathy secondary to muscular dystrophy. Pediatr Cardiol 2008;29:343–51.; https://nmb.abvpress.ru/jour/article/view/127

Διαθεσιμότητα: https://nmb.abvpress.ru/jour/article/view/127
https://doi.org/10.17650/2222-8721-2015-5-4-10-15

Muscle MRI / whole-body MRI in diagnosis and dynamic evaluation of neuro-muscular disorders ; МРТ мышц / МРТ всего тела в диагностике и динамическом наблюдении пациентов с нервно-мышечными заболеваниями

Συγγραφείς: Robert Carlier

Πηγή: Neuromuscular Diseases; № 2 (2014); 16-26 ; Нервно-мышечные болезни; № 2 (2014); 16-26 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2014-0-2

Θεματικοί όροι: наследственные болезни мышц, whole-body MRI, muscle anatomy, neuromuscular disorders, limb girdle muscle dystrophy, pattern of muscle involvement, fatty muscle degeneration, muscle atrophy, inherited muscle diseases, MRI and biopsy, магнитно-резонансная томография всего тела, анатомия мышц, нервно- мышечные болезни, поясно-конечностная мышечная дистрофия, паттерн поражения мышц, жировое замещение, атрофия мышц

Περιγραφή αρχείου: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/18/14; Ron E. Cancer risks from medical radiation. Health Phys 2003;85(1):47–59.; Takamatsu N., Mori A., Nodera H. Sonographic evaluation of myopathy. Brain Nerve 2014;66(3):247–57.; Udd B., Lamminen A., Somer H. Imaging methods reveal unexpected patchy lesions in late onset distal myopathy. Neuromuscul Disord 1991;1(4):279–85.; Schedel H., Reimers C.D., Nägele M. et al. Imaging techniques in myotonic dystrophy. A comparative study of ultrasound, computed tomography and magnetic resonance imaging of skeletal muscles. Eur J Radiol 1992;15(3):230–8.; Lamminen A.E., Hekali P.E., Tiula E. et al. Acute rhabdomyolysis: evaluation with magnetic resonance imaging compared with computed tomography and ultrasonography. Br J Radiol 1989;62(736):326–30.; Lamminen A.E. Magnetic resonance imaging of primary skeletal muscle diseases patterns of distribution and severity of involvement. Br J Radiol 1990;63(756): 946–50.; Messineo D., Cremona A., Trinci M. et al. MRI in the study of distal primary myopathopies and of muscular alterations due to peripheral neuropathies: possible diagnostic capacities of MR equipment with low intensity field (0.2 T) dedicated to peripheral limbs. Magn Reson Imaging 1998;16(7):731–41.; Mercuri E., Pichiecchio A., Counsell S. et al. A short protocol for muscle MRI in children with muscular dystrophies. Eur J Paediatr Neurol 2002;6(6):305–7.; Mercuri E., Cini C., Counsell S. et al. Muscle MRI findings in a three-generation family affected by Bethlem myopathy. Eur J Paediatr Neurol 2002;6(6):309–14.; Mercuri E., Talim B., Moghadaszadeh B. et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid pine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 2002;12 (7–8):631–8.; Jungbluth H., Sewry C.A., Buj-Bello A. et al. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed Xinactivation. Neuromuscul Disord 2003;13(1):55–9.; Mercuri E., Cini C., Pichiecchio A. et al. Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromuscul Disord 2003;13(7–8):554–8.; Mercuri E., Jungbluth H., Muntoni F. et al. Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol 2005;18(5):526–37.; Lovitt S., Marden F.A., Gundogdu B. et al. MRI in myopathy. Neurol Clin 2004;22(3):509–38.; Ozsarlak O., Parizel P.M., De Schepper A.M. et al. Whole-body MR screening of muscles in the evaluation of neuromuscular diseases. Eur Radiol 2004;14(8):1489–93.; Walker R., Kessar P., Blanchard R. et al. Turbo STIR magnetic resonance imaging asa whole-body screening tool for metastases in patients with breast carcinoma: preliminaryclinical experience. J Magn Reson Imaging 2000;11(4):343–50.; Lauenstein T.C., Freudenberg L.S., Goehde S.C. et al. Whole-body MRI using a rolling table platform for the detection of bone metastases. Eur Radiol 2002;12(8):2091–9.; Schlemmer H.P., Schäfer J., Pfannenberg C. et al. Fast whole-body assessment of metastaticdisease using a novel magnetic resonance imaging system: initial experiences. Invest Radiol 2005;40(2):64–71.; Goehde S.C., Hunold P., Vogt F.M. et al. Full-body cardiovascular and tumor MRI forearly detection of disease: feasibility and initial experience in 298 subjects. Am J Roentgenol 2005;184(2):598–611.; Engelhard K., Hollenbach H.P., Wohlfart K. et al. Comparison of whole-body MRI with automatic moving table technique and bone scintigraphy for screening for bone metastases in patients with breast cancer. Eur Radiol 2004;14(1):99–105.; Carlier R.Y., Laforet P., Wary C. et al. hole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. Neuromuscul Disord 2011;21(11):791–9.; Quijano-Roy S., Carlier R.Y., Fischer D. et al. Muscle imaging in congenital myopathies. Semin Pediatr Neurol 2011;18(4):221–9.; Quijano-Roy S., Avila-Smirnow D., Carlier R.Y. et al. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord 2012; 22 Suppl 2:68–84.; Jarraya M., Quijano-Roy S., Monnier N. et al. Whole-Body muscle MRI in a series of atients with congenital myopathy related to TPM2 gene mutations. Neuromuscul Disord 2012;22 Suppl 2:137–47.; Sarkozy A., Deschauer M., Carlier R.Y. et al. Muscle MRI findings in limb girdle muscular dystrophy type 2L. Neuromuscul Disord 2012;22 Suppl 2:122–9.; Mercuri E., Manzur A., Main M. et al. Is there post-natal muscle growth in amyoplasia? A sequential MRI study. Neuromuscul Disord 2009;19(6):444–5.; Goutallier D., Postel J.M., Bernageau J. et al. Fatty muscle degeneration in cuff ruptures. Pre- and postoperative evaluation by CT scan. Clin Orthop Relat Res 1994;(304): 78–83.; Mercuri E., Pichiecchio A., Allsop J. et al. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 2007;25(2):433–40.; Dieterich K., Quijano-Roy S., Monnier N. et al. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Hum Mol Genet 2013;22(8):1483–92.; Ohana M., Moser T., Moussaouï A. et al. Current and future imaging of the peripheral nervous system. Diagn Interv Imaging 2014;95(1):17–26.; Wattjes M.P., Kley R.A., Fischer D. Neuromuscular imaging in inherited muscle diseases. Eur Radiol 2010;20(10):2447–60.; Schramm N., Born C., Weckbach S. et al. Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol. Eur Radiol 2008;18(12):2922–36.; Kesper K., Kornblum C., Reimann J. et al. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. Acta Neurol Scand 2009;120(2):111–8.; Straub V., Carlier P.G., Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25–26 February 2011, Rome, Italy. Neuromuscul Disord 2012;22 Suppl 2: 42–53.; https://nmb.abvpress.ru/jour/article/view/18

Διαθεσιμότητα: https://nmb.abvpress.ru/jour/article/view/18
https://doi.org/10.17650/2222-8721-2014-0-2-16-26

Поражения сердца при нервно-мышечных заболеваниях у детей

Συγγραφείς: АРХИПОВА Е.Н.

Θεματικοί όροι: НЕРВНО-МЫШЕЧНЫЕ БОЛЕЗНИ,МЫШЕЧНАЯ ДИСТРОФИЯ ДЮШЕННА,МИОТОНИЧЕСКАЯ ДИСТРОФИЯ 1-ГО И 2-ГО ТИПОВ,ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ,МЫШЕЧНАЯ ДИСТРОФИЯ ЭМЕРИ-ДРЕЙФУСА,ДИЛАТАЦИОННАЯ КАРДИОМИОПАТИЯ,ЖЕЛУДОЧКОВАЯ АРИТМИЯ,ФИБРИЛЛЯЦИЯ ПРЕДСЕРДИЯ,НАРУШЕНИЕ АТРИОВЕНТРИКУЛЯРНОЙ ПРОВОДИМОСТИ,НАРУШЕНИЕ ВНУТРИЖЕЛУДОЧКОВОЙ ПРОВОДИМОСТИ,ВНЕЗАПНАЯ КАРДИАЛЬНАЯ СМЕРТЬ

Περιγραφή αρχείου: text/html

Διαθεσιμότητα: http://cyberleninka.ru/article/n/porazheniya-serdtsa-pri-nervno-myshechnyh-zabolevaniyah-u-detey
http://cyberleninka.ru/article_covers/16870052.png

ДИАГНОСТИЧЕСКИЕ ВОЗМОЖНОСТИ МРТ МЫШЦ ПРИ НЕРВНО-МЫШЕЧНЫХ ЗАБОЛЕВАНИЯХ

Συγγραφείς: Влодавец, Дмитрий, Казаков, Дмитрий

Θεματικοί όροι: МРТ МЫШЦ, НЕРВНО-МЫШЕЧНЫЕ ЗАБОЛЕВАНИЯ, ЖИРОВАЯ ДЕГЕНЕРАЦИЯ МЫШЦ, СПЕЦИФИЧЕСКИЕ ПАТТЕРНЫ ПОРАЖЕНИЯ МЫШЦ, Т1И Т2ИМПУЛЬСНАЯ ПОСЛЕДОВАТЕЛЬНОСТЬ, ПАТТЕРН "ПОЛОС ТИГРА", "TIGER" PATTERN, ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ 2А ТИПА, ПМД ДЮШЕННА, ФЕНОТИП ЭМЕРИ-ДРЕЙФУСА, МИОПАТИЯ БЕТЛЕМА

Περιγραφή αρχείου: text/html

Διαθεσιμότητα: http://cyberleninka.ru/article/n/diagnosticheskie-vozmozhnosti-mrt-myshts-pri-nervno-myshechnyh-zabolevaniyah
http://cyberleninka.ru/article_covers/15785242.png

Мрт мышц / мрт всего тела в диагностике и динамическом наблюдении пациентов с нервно-мышечными заболеваниями

Συγγραφείς: Robert, Carlier

Θεματικοί όροι: МАГНИТНО-РЕЗОНАНСНАЯ ТОМОГРАФИЯ,МАГНИТНО-РЕЗОНАНСНАЯ ТОМОГРАФИЯ ВСЕГО ТЕЛА,АНАТОМИЯ МЫШЦ,НЕРВНОМЫШЕЧНЫЕ БОЛЕЗНИ,ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ,ПАТТЕРН ПОРАЖЕНИЯ МЫШЦ,ЖИРОВОЕ ЗАМЕЩЕНИЕ,АТРОФИЯ МЫШЦ,НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ МЫШЦ,МРТ И БИОПСИЯ,ИНФОРМАТИВНОСТЬ МРТ МЫШЦ,КЛАССИФИКАЦИЯ MERCURI

Περιγραφή αρχείου: text/html

Διαθεσιμότητα: http://cyberleninka.ru/article/n/mrt-myshts-mrt-vsego-tela-v-diagnostike-i-dinamicheskom-nablyudenii-patsientov-s-nervno-myshechnymi-zabolevaniyami
http://cyberleninka.ru/article_covers/15823678.png

ДИСФЕРЛИНОПАТИИ: ВОЗМОЖНОСТИ ДИАГНОСТИКИ, МОДЕЛИРОВАНИЯ И ГЕННО-КЛЕТОЧНОЙ ТЕРАПИИ

Συγγραφείς: Старостина, И., Соловьева, В., Юрьева, К., Шевченко, К., Федотов, В., Ризванов, А., Деев, Р., Исаев, А.

Θεματικοί όροι: ДИСФЕРЛИНОПАТИИ, ДИСФЕРЛИН, МИОПАТИЯ МИОШИ, ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, ДИСТАЛЬНАЯ МИОПАТИЯ С ПЕРВИЧНЫМ ПОРАЖЕНИЕМ ПЕРЕДНЕЙ ГРУППЫ МЫШЦ ГОЛЕНИ

Περιγραφή αρχείου: text/html

Διαθεσιμότητα: http://cyberleninka.ru/article/n/disferlinopatii-vozmozhnosti-diagnostiki-modelirovaniya-i-genno-kletochnoy-terapii
http://cyberleninka.ru/article_covers/14511203.png

Сравнительный анализ особенностей фенотипов поясно-конечностных мышечных дистрофий 2а и 2i типов

Συγγραφείς: Шаркова, И., Дадали, Е., Рыжкова, О., Евдокименков, В.

Θεματικοί όροι: ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, 2А ТИП, 2I ТИП, ГЕНЫ CAPN3, КАЛЬПАИН 3, ФУКУТИНСВЯЗАННЫЙ БЕЛОК, КОНТРАКТУРЫ КРУПНЫХ СУСТАВОВ, ПСЕВДОГИПЕРТРОФИИ ИКРОНОЖНЫХ МЫШЦ, МЕДИКО-ГЕНЕТИЧЕСКОЕ КОНСУЛЬТИРОВАНИЕ

Περιγραφή αρχείου: text/html

Διαθεσιμότητα: http://cyberleninka.ru/article/n/sravnitelnyy-analiz-osobennostey-fenotipov-poyasno-konechnostnyh-myshechnyh-distrofiy-2a-i-2i-tipov
http://cyberleninka.ru/article_covers/15365808.png

Поражения сердца при нервно-мышечных заболеваниях у детей

Πηγή: Нервно-мышечные болезни.

Θεματικοί όροι: НЕРВНО-МЫШЕЧНЫЕ БОЛЕЗНИ,МЫШЕЧНАЯ ДИСТРОФИЯ ДЮШЕННА,МИОТОНИЧЕСКАЯ ДИСТРОФИЯ 1-ГО И 2-ГО ТИПОВ,ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ,МЫШЕЧНАЯ ДИСТРОФИЯ ЭМЕРИ-ДРЕЙФУСА,ДИЛАТАЦИОННАЯ КАРДИОМИОПАТИЯ,ЖЕЛУДОЧКОВАЯ АРИТМИЯ,ФИБРИЛЛЯЦИЯ ПРЕДСЕРДИЯ,НАРУШЕНИЕ АТРИОВЕНТРИКУЛЯРНОЙ ПРОВОДИМОСТИ,НАРУШЕНИЕ ВНУТРИЖЕЛУДОЧКОВОЙ ПРОВОДИМОСТИ,ВНЕЗАПНАЯ КАРДИАЛЬНАЯ СМЕРТЬ, 3. Good health

Περιγραφή αρχείου: text/html

Σύνδεσμος πρόσβασης: http://cyberleninka.ru/article_covers/16870052.png
http://cyberleninka.ru/article/n/porazheniya-serdtsa-pri-nervno-myshechnyh-zabolevaniyah-u-detey

Диагностические возможности мрт мышц при нервно-мышечных заболеваниях

Πηγή: Неврологический журнал.

Θεματικοί όροι: 03 medical and health sciences, 0302 clinical medicine, МРТ МЫШЦ, НЕРВНО-МЫШЕЧНЫЕ ЗАБОЛЕВАНИЯ, ЖИРОВАЯ ДЕГЕНЕРАЦИЯ МЫШЦ, СПЕЦИФИЧЕСКИЕ ПАТТЕРНЫ ПОРАЖЕНИЯ МЫШЦ, Т1И Т2ИМПУЛЬСНАЯ ПОСЛЕДОВАТЕЛЬНОСТЬ, ПАТТЕРН 'ПОЛОС ТИГРА', 'TIGER' PATTERN, ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ 2А ТИПА, ПМД ДЮШЕННА, ФЕНОТИП ЭМЕРИ-ДРЕЙФУСА, МИОПАТИЯ БЕТЛЕМА, 3. Good health

Περιγραφή αρχείου: text/html

Σύνδεσμος πρόσβασης: http://cyberleninka.ru/article/n/diagnosticheskie-vozmozhnosti-mrt-myshts-pri-nervno-myshechnyh-zabolevaniyah
http://cyberleninka.ru/article_covers/15785242.png

Дисферлинопатии: возможности диагностики, моделирования и генно-клеточной терапии

Πηγή: Гены и клетки.

Θεματικοί όροι: 0301 basic medicine, 0303 health sciences, 03 medical and health sciences, ДИСФЕРЛИНОПАТИИ, ДИСФЕРЛИН, МИОПАТИЯ МИОШИ, ПОЯСНО-КОНЕЧНОСТНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, ДИСТАЛЬНАЯ МИОПАТИЯ С ПЕРВИЧНЫМ ПОРАЖЕНИЕМ ПЕРЕДНЕЙ ГРУППЫ МЫШЦ ГОЛЕНИ

Περιγραφή αρχείου: text/html

Σύνδεσμος πρόσβασης: http://cyberleninka.ru/article/n/disferlinopatii-vozmozhnosti-diagnostiki-modelirovaniya-i-genno-kletochnoy-terapii
http://cyberleninka.ru/article_covers/14511203.png