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1Academic Journal
Authors: E. A. Nikolaeva, G. V. Dzhivanshiryan, O. N. Komarova, S. V. Bochenkov, A. Yu. Nikolskayav, D. Yu. Tokareva, V. Yu. Voinova, Е. А. Николаева, Г. В. Дживанширян, О. Н. Комарова, С. В. Боченков, А. Ю. Никольская, Д. Ю. Токарева, В. Ю. Воинова
Contributors: The authors thank the family of the sick child for their assistance in preparing the article, Авторы благодарят семью больного ребенка за содействие в подготовке статьи.
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 6 (2024); 91-96 ; Российский вестник перинатологии и педиатрии; Том 69, № 6 (2024); 91-96 ; 2500-2228 ; 1027-4065
Subject Terms: митохондриальные нарушения, DIGFAN syndrome, Charcot–Marie–Tooth disease, MORC2 gene, mitochondrial disorders, синдром DIGFAN, болезнь Шарко–Мари–Тута, ген MORC2
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Relation: https://www.ped-perinatology.ru/jour/article/view/2096/1556; Sevilla T., Lupo V., Martínez-Rubio D., Sancho P., Sivera R., Chumillas M. J. et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain 2016; 139(Pt 1): 62–72. DOI:10.1093/brain/awv311; Hyun Y.S., Hong Y.B., Choi B.O., Chung K.W. Clinico-genetics in Korean Charcot–Marie–Tooth disease type 2Z with MORC2 mutations. Brain 2016; 139 (Pt 7): e40. DOI:10.1093/brain/aww082; Li D.Q., Nair S.S., Kumar R. The MORC family: new epigenetic regulators of transcription and DNA damage response. Epigenetics 2013; 8(7): 685–693. DOI:10.4161/epi.24976; Guillen Sacoto M.J., Tchasovnikarova I.A., Torti E., Forster C., Andrew E.H., Anselm I. et al. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet 2020; 107(2): 352–363. DOI:10.1016/j.ajhg.2020.06.013; Zhang F.L., Yang S.Y., Liao L., Deng L., Haung M.Y., Hu S.-Y. et al. Dynamic SUMOylation of MORC2 orchestrates chromatin remodelling and DNA repair in response to DNA damage and drives chemoresistance in breast cancer. Theranostics 2023; 13(3): 973–990. DOI:10.7150/thno.79688; Tchasovnikarova I.A., Timms R.T., Douse C.H., Roberts R.C., Dougan G., Kingston R.E. et al. Hyperactivation of HUSH complex function by Charcot–Marie–Tooth disease mutation in MORC2. Nat Genet 2017; 49(7): 1035–1044. DOI:10.1038/ng.3878; Sancho P., Bartesaghi L., Miossec O., Siddell A., Hedlund E., Åkesson E. et al. Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations. Hum Mol Genet 2019; 28(10): 1629–1644. DOI:10.1093/hmg/ddz006; Sánchez-Solana B., Li D.Q., Kumar R. Cytosolic functions of MORC2 in lipogenesis and adipogenesis. Biochim Biophys Acta 2014; 1843(2): 316–326. DOI:10.1016/j.bbamcr.2013.11.012; Ando M., Okamoto Y., Yoshimura A., Yuan J-H, Hiramatsu Y., Higuchi Y. et al. Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan. Eur J Neurol 2017; 24(10): 1274–1282. DOI:10.1111/ene.13360; Schofield C. An annotated bibliography of source material for basal metabolic rate data. Hum Nutr Clin Nutr 1985; 39 (Suppl. 1): 42–91.
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2Academic Journal
Authors: A. F. Murtazina, P. N. Tsabay, G. E. Rudenskaya, L. A. Bessonova, F. M. Bostanova, D. M. Guseva, I. V. Sharkova, O. A. Shchagina, A. A. Orlova, O. P. Ryzhkova, T. V. Markova, A. S. Kuchina, S. S. Nikitin, E. L. Dadali, А. Ф. Муртазина, П. Н. Цабай, Г. Е. Руденская, Л. А. Бессонова, Ф. М. Бостанова, Д. М. Гусева, И. В. Шаркова, О. А. Щагина, А. А. Орлова, О. П. Рыжкова, Т. В. Маркова, А. С. Кучина, С. С. Никитин, Е. Л. Дадали
Source: Neuromuscular Diseases; Том 13, № 2 (2023); 42-55 ; Нервно-мышечные болезни; Том 13, № 2 (2023); 42-55 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2023-13-2
Subject Terms: TRPV4, Charcot–Marie–Tooth disease 2C, scapuloperoneal spinal muscular atrophy, congenital distal spinal muscular atrophy, болезнь Шарко–Мари–Тута 2С, скапуло‑перонеальная спинальная мышечная атрофия, врожденная дистальная спинальная мышечная атрофия
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Relation: https://nmb.abvpress.ru/jour/article/view/542/349; Auer-Grumbach M., Olschewski A., Papic L. et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 2010;42(2): 160–4. DOI:10.1038/ng.508; Zimon M., Baets J., Auer-Grumbach M. et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010;133(Pt 6):1798–809. DOI:10.1093/brain/awq109; Fiorillo C., Moro F., Brisca G. et al. TRPV4 mutations in children with congenital distal spinal muscular atrophy. Neurogenetics 2012;13(3):195–203. DOI:10.1007/s10048-012-0328-7; Chen D.H., Sul Y., Weiss M. et al. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology 2010;75(22):1968–75. DOI:10.1212/WNL.0b013e3181ffe4bb; Aharoni S., Harlalka G., Offiah A. et al. Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. Am J Med Genet A 2011;155A(12):3153–6. DOI:10.1002/ajmg.a.34327; Berciano J., Baets J., Gallardo E. et al. Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. J Neurol 2011;258(8):1413–21. DOI:10.1007/s00415-011-5947-7; Koutsis G., Lynch D., Manole A. et al. Charco–Marie–Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. J Neurol 2015;262(8):1972–5. DOI:10.1007/s00415-015-7800-x; Vill K., Kuhn M., Glaser D. et al. Long-term observations in an affected family with neurogenic scapuloperoneal syndrome caused by mutation R269C in the TRPV4 gene. Neuropediatrics 2015;46(4):282–6. DOI:10.1055/s-0035-1554100; Jedrzejowska M., Debek E., Kowalczyk B. et al. The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene. Muscle Nerve 2019;59(1):129–33. DOI:10.1002/mus.26346; Garcia-Elias A., Lorenzo I.M., Vicente R. et al. IP3 receptor binds to and sensitizes TRPV4 channel to osmotic stimuli viaa calmodulin-binding site. J Biol Chem 2008;283(46):31284–8. DOI:10.1074/jbc.C800184200; Kottgen M., Buchholz B., Garcia-Gonzalez M.A. et al. TRPP2 and TRPV4 form a polymodal sensory channel complex. J Cell Biol 2008;182(3):437–47. DOI:10.1083/jcb.200805124; Donate-Macian P., Jungfleisch J., Perez-Vilaro G. et al. The TRPV4 channel links calcium influx to DDX3X activity and viral infectivity. Nat Commun 2018;9(1):2307. DOI:10.1038/s41467-018-04776-7; Arniges M., Fernandez-Fernandez J.M., Albrecht N. et al. Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and trafficking. J Biol Chem 2006;281(3):1580–6. DOI:10.1074/jbc.M511456200; Takahashi N., Hamada-Nakahara S., Itoh Y. et al. TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P(2). Nat Commun 2014;5:4994. DOI:10.1038/ncomms5994; Strotmann R., Schultz G., Plant T.D. Ca2+-dependent potentiation of the nonselective cation channel TRPV4 is mediated by a C-terminal calmodulin binding site. J Biol Chem 2003;278(29):26541–9. DOI:10.1074/jbc.M302590200; Stenson P.D., Ball E.V., Mort M. et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003;21(6):577–81. DOI:10.1002/humu.10212; Deng H.X., Klein C.J., Yan J. et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 2010;42(2):165–9. DOI:10.1038/ng.509; Landoure G., Zdebik A.A., Martinez T.L. et al. Mutations in TRPV4 cause Charcot–Marie–Tooth disease type 2C. Nat Genet 2010;42(2):170–4. DOI:10.1038/ng.512; Fecto F., Shi Y., Huda R. et al. Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies. J Biol Chem 2011;286(19):17281–91. DOI:10.1074/jbc.M111.237685; Klein C.J., Shi Y., Fecto F. et al. TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot–Marie–Tooth neuropathies. Neurology 2011;76(10):887–94. DOI:10.1212/WNL.0b013e31820f2de3; Sullivan J.M., Zimanyi C.M., Aisenberg W. et al. Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. Neurol Genet 2015;1(4):e29. DOI:10.1212/NXG.0000000000000029; Taga A., Peyton M.A., Goretzki B. et al. TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function. Ann Clin Transl Neurol 2022;9(3):375–91. DOI:10.1002/acn3.51523; Cho T.J., Matsumoto K., Fano V. et al. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. Am J Med Genet A 2012;158A(4):795–802. DOI:10.1002/ajmg.a.35268; Fawcett K.A., Murphy S.M., Polke J.M. et al. Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. J Neurol Neurosurg Psychiatry 2012;83(12):1204–9. DOI:10.1136/jnnp-2012-303055; Drew A.P., Zhu D., Kidambi A. et al. Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med 2015;3(2):143–54. DOI:10.1002/mgg3.126; Uchoa Cavalcanti E.B., Santos S.C.L., Martins C.E.S. et al. Char-cot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center. J Peripher Nerv Syst 2021;26(3):290–7. DOI:10.1111/jns.12458; Volodarsky M., Kerkhof J., Stuart A. et al. Comprehensive genetic sequence and copy number analysis for Charcot–Marie–Tooth disease in a Canadian cohort of 2517 patients. J Med Genet 2021;58(4):284–8. DOI:10.1136/jmedgenet-2019-106641; Dai J., Kim O.H., Cho T.J. et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet 2010;47(10):704–9. DOI:10.1136/jmg.2009.075358; Маркова Т.В., Кенис В.М., Мельченко Е.В. и др. Клиникогенетические характеристики TRPV4-ассоциированных скелетных дисплазий у российских пациентов. Медицинская генетика 2022;21(4):25–37. DOI:10.25557/2073-7998.2022.04.25-37; Inada H., Procko E., Sotomayor M. et al. Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. Biochemistry 2012;51(31):6195–206. DOI:10.1021/bi300279b; McCray B.A., Diehl E., Sullivan J.M. et al. Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension. Nat Commun 2021;12(1):1444. DOI:10.1038/s41467-021-21699-y; Dyck P.J., Litchy W.J., Minnerath S. et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol 1994;35(5):608–15. DOI:10.1002/ana.410350515; Deng S., Feely S.M.E., Shi Y. et al. Incidence and clinical features of TRPV4-linked axonal neuropathies in a USA cohort of Char-cot–Marie–Tooth disease type 2. Neuromolecular Med 2020;22(1):68–72. DOI:10.1007/s12017-019-08564-4; Fleury P., Hageman G. A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. J Neurol Neurosurg Psychiatry 1985;48(10):1037–48. DOI:10.1136/jnnp.48.10.1037; Van der Vleuten A.J., van Ravenswaaij-Arts C.M., Frijns C.J. et al. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23–q24. Eur J Hum Genet 1998;6(4):376–82. DOI:10.1038/sj.ejhg.5200229; Echaniz-Laguna A., Dubourg O., Carlier P. et al. Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. Neurology 2014;82(21):1919–26. DOI:10.1212/WNL.0000000000000450; Rossor A.M., Kalmar B., Greensmith L. et al. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry 2012;83(1): 6–14. DOI:10.1136/jnnp-2011-300952; DeLong R., Siddique T. A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. Arch Neurol 1992;49(9):905–8. DOI:10.1001/archneur.1992.00530330027010; McEntagart M. TRPV4 axonal neuropathy spectrum disorder. J Clin Neurosci 2012;19(7):927–33. DOI:10.1016/j.jocn.2011.12.003; Biasini F., Portaro S., Mazzeo A. et al. TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. Neuromuscul Disord 2016;26(4–5):312–5. DOI:10.1016/j.nmd.2016.02.010; Landoure G., Sullivan J.M., Johnson J.O. et al. Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. Neurology 2012;79(2):192–4. DOI:10.1212/WNL.0b013e31825f04b2; Unger S., Lausch E., Stanzial F. et al. Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Am J Med Genet A 2011;155A(11):2860–4. DOI:10.1002/ajmg.a.34268; Faye E., Modaff P., Pauli R. et al. Combined phenotypes of spondylometaphyseal dysplasia–Kozlowski type and Charcot–Marie– Tooth disease type 2C secondary to a TRPV4 pathogenic variant. Mol Syndromol 2019;10(3):154–60. DOI:10.1159/000495778; Муртазина А.Ф., Щагина О.А., Никитин С.С. и др. Современные клинико-генетические представления об аутосомно-рецессивных наследственных периферических нейропатиях. Анналы клинической и экспериментальной неврологии 2019;13(1):55–69. DOI:10.25692/ACEN.2019.1.7; https://nmb.abvpress.ru/jour/article/view/542
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3Academic Journal
Authors: O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov, О. А. Щагина, О. П. Рыжкова, А. Л. Чухрова, Т. Б. Миловидова, П. Гундорова, О. Л. Миронович, А. А. Орлова, М. Д. Орлова, А. В. Поляков
Source: Neuromuscular Diseases; Том 10, № 4 (2020); 12-26 ; Нервно-мышечные болезни; Том 10, № 4 (2020); 12-26 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2020-10-4
Subject Terms: наследственная периферическая нейропатия, HMSN, Charcot–Marie–Tooth disease, CMT, whole exome sequencing, WES, inherited peripheral neuropathy, болезнь Шарко–Мари–Тута, полноэкзомное секвенирование
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Relation: https://nmb.abvpress.ru/jour/article/view/404/279; Barreto L.C.L.S., Oliveira F.S., Nunes P.S. et al. Epidemiologic study of Charcot–Marie–Tooth disease: a systematic review. Neuroepidemiology 2016;46(3):157–65. DOI:10.1159/000443706. PMID: 26849231.; Baets J., Timmerman V. Inherited peripheral neuropathies: a myriad of genes and complex phenotypes. Brain 2011;134(6):1587–90. DOI:10.1093/brain/awr114.; Drew A.P., Zhu D., Kidambi A. et al. Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med 2015;3(2):143–54. DOI:10.1002/mgg3.126. PMID: 25802885.; Hartley T., Wagner J.D., WarmanChardon J. et al. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Clin Genet 2018;93(2):301–9. DOI:10.1111/cge.13101. PMID: 28708278.; Schabhüttl M., Wieland T., Senderek J. et al. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol 2014;(261):970–82. DOI:10.1007/s00415-014-7289-8. PMID: 24627108.; Gonzaga-Jauregui C., Harel T., Gambin T. et al. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep 2015;12(7):1169–83. DOI:10.1016/j.celrep.2015.07.023. PMID: 26257172.; Richards S., Aziz N., Bale S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;(17):405–23. DOI:10.1038/gim.2015.30. PMID: 25741868.; Щагина О.А., Дадали Е.Л., Федотов В.П., Поляков А.В. Спектр мутаций в гене MFN2 у больных наследственной моторно-сенсорной нейропатией II А типа. Медицинская генетика 2006;5(9):21–6.; Дадали Е.Л., Щагина О.А., Федотов В.П. Клинико-генетические особенности моторно-сенсорной нейропатии IIА типа. Анналы клинической и экспериментальной неврологии 2007;1(4):10–5.; Миловидова Т.Б., Дадали Е.Л., Федотов В.П. и др. Клинико-генетичекие корреляции при наследственной моторно-сенсорной нейропатии, вызванной мутациями в гене МРZ (P0). Журнал неврологии и психиатрии им. С.С. Корсакова 2011;111(12):48–55.; Latour P., Thauvin-Robinet C., BaudeletMéry C. et al. A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic alanyl-trna synthetase is mutated in dominant axonal charcotmarie-tooth disease. Am J Hum Genet 2010;86(1):77–82. DOI:10.1016/j.ajhg.2009.12.005. PMID: 20045102.; Shchagina O.A., Milovidova T.B., Murtazina A.F. et al. HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. Mol Biol Rep 2020;(47):1331–7. DOI:10.1007/s11033-019-05238-z.; Дадали Е.Л., Никитин С.С., Курбатов С.А. и др. Клинико-генетические характеристики аутосомно-рецессивной аксональной нейропатии с нейромиотонией у больных из России. Нервно-мышечные болезни 2017;7(3): 47–55. DOI:10.17650/2222-8721-2017-7-3-47-55.; https://nmb.abvpress.ru/jour/article/view/404
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4Academic Journal
Authors: A. F. Murtazina, O. A. Shchagina, T. B. Milovidova, E. L. Dadali, G. E. Rudenskaya, S. A. Kurbatov, T. V. Fedotova, S. S. Nikitin, P. A. Sparber, M. D. Orlova, A. V. Polyakov, А. Ф. Муртазина, О. А. Щагина, Т. Б. Миловидова, Е. Л. Дадали, Г. Е. Руденская, С. А. Курбатов, Т. В. Федотова, С. С. Никитин, П. А. Спарбер, М. Д. Орлова, А. В. Поляков
Contributors: This work was carried out as part of the state task of the Ministry of Education and Science of Russia, Работа выполнена в рамках государственного задания Минобрнауки России
Source: Neuromuscular Diseases; Том 10, № 2 (2020); 39-45 ; Нервно-мышечные болезни; Том 10, № 2 (2020); 39-45 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2020-10-2
Subject Terms: пациенты цыганского происхождения, HMSN, HMSN-type Lom, Charcot–Marie–Tooth disease 4D, CMT4D, NDRG1, Roma patients, болезнь Шарко–Мари–Тута типа 4D, ШМТ4D
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Relation: https://nmb.abvpress.ru/jour/article/view/385/269; Barreto L.C., Oliveira F.S., Nunes P.S. et al. Epidemiologic study of Charcot–Marie– Tooth disease: a systematic review. Neuroepidemiology 2016;46(3):157–65. DOI:10.1159/000443706. PMID: 26849231.; Sevilla T., Martínez-Rubio D., Márquez C. et al. Genetics of the Charcot-MarieTooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin Genet 2013;83(6):565–70. DOI:10.1111/cge.12015. PMID: 22978647.; Šafka Brožková D., Haberlová J., Mazanec R. et al. HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL. Clin Genet 2016;90(2):161–5. DOI:10.1111/cge.12745. PMID: 26822750.; Kalaydjieva L., Gresham D., Gooding R. et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 2000;67(1):47–58. DOI:10.1086/302978. PMID: 10831399.; Claramunt R., Sevilla T., Lupo V. et al. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. Clin Gene 2007;71(4):343–9. DOI:10.1111/j.1399-0004.2007.00774.x. PMID: 17470135.; Смирнова-Сеславинская М.В., Цветков Г.Н. Антропология социокультурного развития цыганского населения России. М.: Федеральный институт развития образования, 2011. 128 с.; Федеральная служба государственной статистики. URL: https://www.gks.ru/free_doc/new_site/perepis2010/croc/perepis_itogi1612.htm.; Kalaydjieva L., Hallmayer J., Chandler D. et al. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet 1996;14(2):214–7. DOI:10.1038/ng1096-214. PMID: 8841199.; The Human Gene Mutation Database. URL: http://www.hgmd.cf.ac.uk/ac/index.php.; Morar B., Gresham D., Angelicheva D. et al. Mutation history of the roma/ gypsies. Am J Hum Genet 2004;75(4):596– 609. DOI:10.1086/424759. PMID: 15322984.; Chandler D., Angelicheva D., Heather L. et al. Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscul Disord 2000;10(8):584–91. DOI:10.1016/s0960-8966(00)00148-6. PMID: 11053686.; King R.H., Chandler D., Lopaticki S. et al. Ndrg1 in development and maintenance of the myelin sheath. Neurobiol Dis 2011;42(3):368–80. DOI:10.1016/j.nbd.2011.01.030. PMID: 21303696.; Echaniz-Laguna A., Degos B., Bonnet C. et al. NDRG1-linked Charcot-MarieTooth disease (CMT4D) with central nervous system involvement. Neuromuscul Disord 2007;17(2):163–8. DOI:10.1016/j.nmd.2006.10.002. PMID: 17142040.; Luigetti M., Taroni F., Milani M. et al. Clinical, electrophysiological and pathological findings in a patient with Charcot–Marie–Tooth disease 4D caused by the NDRG1 Lom mutation. J Neurol Sci 2014;345(1–2):271–3. DOI:10.1016/j.jns.2014.07.042. PMID: 25108819.; https://nmb.abvpress.ru/jour/article/view/385
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5Academic Journal
Authors: E. V. Saifullina, R. V. Magzhanov, I. M. Khidiiatova, E. K. Khusnutdinova, Е. В. Сайфуллина, Р. В. Магжанов, И. М. Хидиятова, Э. К. Хуснутдинова
Source: Neuromuscular Diseases; Том 7, № 1 (2017); 37-42 ; Нервно-мышечные болезни; Том 7, № 1 (2017); 37-42 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2017-7-1
Subject Terms: дифференциальная диагностика, Charcot–Marie–Tooth disease, differential diagnosis, болезнь Шарко–Мари–Тута
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DOI:10.1093/brain/103.2.259. PMID: 7397478.; Nicholson G., Myers S. Intermediate forms of Charcot–Marie–Tooth neuropathy: a review. Neuromolecular Med 2006;8(1–2):123–30. DOI:10.1385/NMM:9:1. PMID: 16775371.; Timmerman V., Strickland A. V., Züchner S. Genetics of Charcot–Marie– Tooth (CMT) disease within the frame of the human genome project success. Genes (Basel) 2014;5(1):13–32. DOI:10.3390/genes5010013. PMID: 24705285.; Дадали Е.Л., Макаов А.Х.-М., Галкина В.А. и др. Наследственная моторно-сенсорная нейропатия, обусловленная мутацией в гене NEFL, в семье из Карачаево-Черкессии. Нервно-мышечные болезни 2016;6(2):47–51. [Dadali Е.L., Маkаоv А.Кh.-М., Galkina А.V. et al. Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia. Nervno-myshechnye bolezni = Neuromuscular Diseases ;6(2):47–51. (In Russ.)]. DOI:10.17650/2222-8721-2016-6-2-47-51.; Крупина Н. Б., Магжанов Р. В., Сайфуллина Е. В. База данных по наследственным моторно-сенсорным нейропатиям Республики Башкортостан. Здравоохранение и медицинская техника 2006;(3):46. [Krupina N. B., Magzhanov R. V., Saifullina E. V. Database of hereditary motor and sensory neuropathies of the Republic of Bashkortostan. Zdravookhranenie i meditsinskaya tekhnika = Healthcare and Medical Devices 2006;(3):46. (In Russ.)].; Julião O. F. Étudesur la névritehypertrophique progressive de Déjerine-Sottas. Arq Neuropsiquiatr 1952;10(2):221–46. DOI:10.1590/s0004-282x1952000200012. PMID: 12987354.; Roa B. B., Dyck P. J., Marks H. G. et al. Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993;5(3):269–73. DOI:10.1038/ng1193-269. PMID: 8275092.; Hayasaka K., Himoro M., Sawaishi Y. et al. De novo mutation of the myelin P0 gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 1993;5(3):266–8. DOI:10.1038/ng1193-266. PMID: 7506095.; Timmerman V., de Jonghe P., Ceuterick C. et al. Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype. Neurology 1999;52(9):1827. DOI:10.1212/wnl.52.9.1827. PMID: 10371530.; Boerkoel C. F., Takashima H., Stankiewicz P. et al. Periaxin mutations cause recessive Dejerine–Sottas neuropathy. Am J Hum Genet 2001;68(2):325–33. DOI:10.1086/318208. PMID: 11133365.; Planté-Bordeneuve V., Guiochon-Mantel A., Lacroix C. et al. The Roussy-Lévy family: from the original description to the gene. Ann Neurol 1999;46(5):770–3. PMID: 10553995.; Parman Y., Battaloglu E., Baris I. et al. Clinicopathological and genetic study of early- onset demyelinating neuropathy. Brain 2004;127(Pt 11):2540–50. DOI:10.1093/brain/awh275. PMID: 15469949.; Bidichandani S. I., Delatycki M. B. Friedreich ataxia. In book: Gene Reviews. Eds. R. A. Pagon, M. P. Adam, H. H. Ardinger et al. Seattle: University of Washington, 1993. PMID: 20301458.; Fink J. K. Hereditary spastic paraplegia overview. In book: Gene Reviews. Eds. R. A. Pagon, M. P. Adam, H. H. Ardinger et al. Seattle: University of Washington, 1993. PMID: 20301682.; Сайфуллина Е. В., Магжанов Р. В., Хидиятова И. М. и др. Клинический случай новой мутации в гене коннексина 32 в семье с Х-сцепленной наследственной моторно- сенсорной нейропатией. Неврологический журнал 2011;(4):45–7. [Saifullina E. V., Magzhanov R. V., Khidiiatova I. M. et al. Clinical case of a new mutation in connexin 32 gene in a family with X-linked hereditary motor and sensory neuropathy. Nevrologicheskiy zhurnal = Neurological Journal 2011;(4):45–7. (In Russ.)].; Сайфуллина Е. В., Магжанов Р. В., Хидиятова И. М. и др. Клинико-генетическая характеристика пациентов с наследственными моторно-сенсорными невропатиями из Республики Башкортостан с мутациями в гене MFN2. Неврологический журнал 2013; (1):30–4. [Saifullina E. V., Magzhanov R. V., Khidiiatova I. M. et al. The clinical and genetic characteristics of patients with inherited motor and sensor neuropathy and gene MFN2 mutation in Republic of Bashkortostan. Nevrologicheskiy zhurnal = Neurological Journal 2013;(1):30–4. (In Russ.)]. DOI:10.18821/1560-9545-2013-18-1-30-34.; Ionasescu V., Ionasescu R., Searby C. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot–Marie– Tooth neuropathy. Am J Med Genet 1996;63(3):486–91. DOI:10.1002/(SICI)1096-8628 (19960614)63:33.0. CO;2-I. PMID: 8737658.; Дадали Е. Л., Шаркова И. В., Федотов В. П. и др. Клинико-генетический анализ наследственной моторно-сенсорной нейропатии IX типа (НМСН IX). Медицинская генетика 2004;(5):235–41. [Dadali E. L., Sharkova I. V., Fedotov V. P. et al. Clinical and genetic analysis of type IX hereditary motor and sensory neuropathy (HMSN IX). Meditsinskaya genetika = Medical Genetics 2004;(5):235–41. (In Russ.)].; Irobi J., De Jonghe P., Timmerman V. 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6Academic Journal
Authors: E. L. Dadali, A. Kh.-M. Маkаоv, V. A. Galkina, F. A. Konovalov, A. V. Polyakov, M. V. Bulakh, R. A. Zinchеnkо, Е. Л. Дадали, А. Х.-М. Макаов, В. А. Галкина, Ф. А. Коновалов, А. В. Поляков, М. В. Булах, Р. А. Зинченко
Source: Neuromuscular Diseases; Том 6, № 2 (2016); 47-51 ; Нервно-мышечные болезни; Том 6, № 2 (2016); 47-51 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2016-6-2
Subject Terms: экзомное секвенирование, Charcot–Marie–Tooth disease type 2Е, Karachay-Cherkessia, NEFL, missense mutation с.65G>T, exsome sequencing, болезнь Шарко–Мари–Тута типа 2Е, Карачаево-Черкессия, миссенс-мутация с.65G>T
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Relation: https://nmb.abvpress.ru/jour/article/view/154/142; Harel T., Lupski J.R. Charcot–Marie– Tooth disease and pathways to molecular based therapies. Clin Genet 2014;86(5): 422–31. DOI:10.1111/cge.12393. PMID: 24697164.; Saporta M.A., Shy M.E. Inherited peripheral neuropathies. Neurol Clin 2013;31(2):597–619. DOI:10.1016/j.ncl.2013.01.009. PMID: 23642725.; Timmerman V., Strickland A.V., Züchner S. Genetics of Charcot-Marie- Tooth (CMT) disease within the frame of the human genome project success. Genes (Basel) 2014;5(1):13–32. DOI:10.3390/genes5010013. PMID: 24705285.; Dyck P.J., Lambert E.H. Lower motor and primary sensory neuron disease with peroneal muscular atrophy. Arch Neurol 1968;18(6):603–18. PMID: 4297451.; Dyck P.J., Chance P., Lebo R., Carney J.A. Hereditary motor and sensory neuropathies. In: Peripheral Neuropathy. By eds. P.J. Dyck, P.K. Thomas, J.W. Griffin et al. Philadelphia: W.B. Saunders Company, 1993. Pp. 1094–1136.; Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103(2):259–80. PMID: 7397478.; Shy M.E., Patzkо A. Axonal Charcot-Marie-Tooth disease. Curr Opin Neurol 2011;24(5):475–83. DOI:10.1097/ WCO.0b013e32834aa331. PMID: 21892080.; Rossor A.M., Polke J.M., Houlden H. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 2013;9(10):562–71. DOI:10.1038/ nrneurol.2013. PMID: 24018473.; De Jonghe P., Mersiyanova I., Nelis E. et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 2001;49(2):245–9. PMID: 11220745.; Mersiyanova I.V., Perepelov A.V., Polyakov A.V. et al. A new variant of Charcot-Marie- Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000;67(1):37–46. PMID: 10841809.; Georgiou D.M., Zidar J., Korosec M. et al. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 2002;4(2):93–6. PMID: 12481988.; Fabrizi G.M., Cavallaro T., Angiari C. et al. Giant axon and neurofilament accumulation in Charcot–Marie–Tooth disease type 2E. Neurology 2004;62(8):1429–31. PMID: 15111691.; Jordanova A., De Jonghe P., Boerkoel C.F. et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease. Brain 2003;126(Pt 3):590–7. PMID: 12566280.; Аbe A., Numakura C., Saito K. et al. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet 2009;54(2):94–7. DOI:10.1038/jhg.2008.13. PMID: 19158810.; Yum S.W., Zhang J., Mo K. et al. A novel recessive NEFL mutation causes a severe, early-onset axonal neuropathy. Ann Neurol 2009;66(6):759–70. DOI:10.1002/ana.21728.PMID: 20039262.; Agrawal P.B., Joshi M., Marinakis N.S. et al. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol 2014;71(11):1413–20. DOI:10.1001/jamaneurol.2014.1432. PMID: 25264603.; Boerkoel C.F., Takashima H., Lupski J.R. The genetic convergence of Charcot–Marie– Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Curr Neurol Neurosci Rep 2002;2(1):70–7. PMID: 11898586.; https://nmb.abvpress.ru/jour/article/view/154
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7Academic Journal
Authors: ДАДАЛИ Е.Л., МАКАОВ А. Х.-М., ГАЛКИНА В.А., КОНОВАЛОВ Ф.А., ПОЛЯКОВ А.В., БУЛАХ М.В., ЗИНЧЕНКО Р.А.
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8Academic Journal
Authors: Шнайдер, Наталья, Гончарова, Светлана, Дюжакова, Анна, Попова, Татьяна, Кантимирова, Елена, Дмитренко, Диана, Шевченко, Сергей
Subject Terms: БАРЬЕРЫ, МОТИВАТОРЫ, ФИЗИЧЕСКАЯ АКТИВНОСТЬ, АБИЛИТАЦИЯ, ФИЗИОТЕРАПИЯ, БОЛЕЗНЬ ШАРКО-МАРИ-ТУТА, ОБЗОР
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9Academic Journal
Authors: Шнайдер, Н., Гончарова, С.
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10Academic Journal
Source: Нервно-мышечные болезни.
Subject Terms: HEREDITARY MOTOR AND SENSORY NEUROPATHY,CHARCOT–MARIE–TOOTH DISEASE TYPE 2Е,KARACHAY-CHERKESSIA,NEFL,MISSENSE MUTATION С.65G>T,EXSOME SEQUENCING,НАСЛЕДСТВЕННАЯ МОТОРНО-СЕНСОРНАЯ НЕЙРОПАТИЯ,БОЛЕЗНЬ ШАРКО–МАРИ–ТУТА ТИПА 2Е,КАРАЧАЕВО-ЧЕРКЕССИЯ,МИССЕНС-МУТАЦИЯ С.65G>T,ЭКЗОМНОЕ СЕКВЕНИРОВАНИЕ, 3. Good health
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11Academic Journal
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12Academic Journal
Authors: Шнайдер, Н., Гончарова, С.
Subject Terms: БОЛЕЗНЬ ШАРКО–МАРИ–ТУТА, АБИЛИТАЦИЯ, ФИЗИОТЕРАПИЯ, БАЛЬНЕОЛОГИЯ, ЛОКАЛЬНАЯ БАРОТЕРАПИЯ, НЕФАРМАКОЛОГИЧЕСКИЕ МЕТОДЫ ЛЕЧЕНИЯ, CHARCOT–MARIE–TOOTH DISEASE
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13Academic Journal
Source: Нервно-мышечные болезни.
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14Academic Journal
Source: Сибирское медицинское обозрение.
Subject Terms: 03 medical and health sciences, БАРЬЕРЫ, МОТИВАТОРЫ, ФИЗИЧЕСКАЯ АКТИВНОСТЬ, АБИЛИТАЦИЯ, ФИЗИОТЕРАПИЯ, БОЛЕЗНЬ ШАРКО-МАРИ-ТУТА, ОБЗОР, 0302 clinical medicine, 3. Good health
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15Academic Journal
Source: Нервно-мышечные болезни.
Subject Terms: 03 medical and health sciences, 0302 clinical medicine, БОЛЕЗНЬ ШАРКО–МАРИ–ТУТА, АБИЛИТАЦИЯ, ФИЗИОТЕРАПИЯ, БАЛЬНЕОЛОГИЯ, ЛОКАЛЬНАЯ БАРОТЕРАПИЯ, НЕФАРМАКОЛОГИЧЕСКИЕ МЕТОДЫ ЛЕЧЕНИЯ, CHARCOT–MARIE–TOOTH DISEASE, 3. Good health
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16Academic Journal
Source: Неврологический журнал.
Subject Terms: НАСЛЕДСТВЕННАЯ МОТОРНО-СЕНСОРНАЯ НЕВРОПАТИЯ 2А, БОЛЕЗНЬ ШАРКО—МАРИ—ТУТА, МИТОФУЗИН 2, 3. Good health
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17Electronic Resource
Additional Titles: Нарушение соотношений в тазобедренных суставах у детей с болезнью Шарко-Мари-Тута (обзор литературы)
Authors: Pozdnikin I.Y.
Source: Pediatric Traumatology, Orthopaedics and Reconstructive Surgery; Vol 3, No 3 (2015); 52-56; Ортопедия, травматология и восстановительная хирургия детского возраста; Vol 3, No 3 (2015); 52-56; 2410-8731; 2309-3994; 10.17816/PTORS33
Index Terms: Charcot-Marie-Tooth disease; hip instability subluxation; hereditary motor and sensory neuropathy; CMTHD; hip dysplasia, болезнь Шарко-Мари-Тута; БШМТ; наследственная моторно-сенсорная невропатия; тазобедренный сустав; подвывих бедра, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion
URL:
http://worldcat.org/search?q=on:RUTIC+http://journals.eco-vector.com/index.php/index/oai+DCG_ENTIRE_REPOSITORY+CNTCOLL https://journals.eco-vector.com/turner/article/view/475/313 https://journals.eco-vector.com/turner/article/view/475/572 https://journals.eco-vector.com/turner/article/view/475/313 https://journals.eco-vector.com/turner/article/view/475/572
10.17816/ecogen3352-56-313
10.17816/ecogen3352-56-572
