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1Academic Journal
Authors: 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
Contributors: 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).
Source: 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
Subject Terms: иммуносупрессия, limb‑girdle muscular dystrophy R2, DYSF gene, inflammatory myopathies, polymyositis, immunosuppression, поясно‑конечностная мышечная дистрофия R2, ген DYSF, воспалительные миопатии, полимиозит
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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. 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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. 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2Academic Journal
Authors: 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
Contributors: Выражаем благодарность заведующей лабораторией «GeneticO» (г. Москва) Е. А. Померанцевой и ее сотрудникам.
Source: 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
Subject Terms: МР-паттерн дисферлинопатий, Limb-girdle muscular dystrophy R2, DYSF, myopathy, muscle MRI, MRI pattern of dysferlinopathy, поясно-конечностная мышечная дистрофия R2, миопатия, МРТ мышц
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