Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press4010.17650/2222-8721-2013-0-1-46-61CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРAutosomal dominant limb-girdle muscular dystrophy: Leyden–Möbius pelvifemoral formКонечностно-поясная мышечная дистрофия с аутосомно- доминантным типом наследования: пельвиофеморальная форма Лейдена–МебиусаShnayderN. A.ШнайдерН. А.
Russian Federation
NASchnaider@yandex.ruNikolayevaT. Ya.НиколаеваТ. Я.
Russian Federation
BoroevaE. N.БороеваЕ. Н.
Russian Federation
PshennikovaG. M.ПшенниковаГ. М.
Russian Federation
LuginovN. V.ЛугиновН. В.
Russian Federation
PaninaYu. S.ПанинаЮ. С.
Russian Federation
Krasnoyarsk State Medical University named after Prof. V.F. Voyno-YasenetskyГБОУ ВПО «Красноярский ГМУ им. проф. В.Ф. Войно-Ясенецкого» Минздрава РоссииM.K. Ammosov North-Eastern Federal University, Ministry of Education of RussiaФГАОУ ВПО «Северо-Восточный федеральный университет им. М.К. Аммосова» Минобрнауки РоссииNational Medicine Center, Republican Hospital OneГБУ «Республиканская больница № 1 – национальный центр медицины»Emergency Medical Care Center, Republican Hospital Two, YakutskГБУ «Республиканская больница № 2 – центр экстренной медицинской помощи», Якутск190520133146611902201519022015Copyright ©; 2013, Shnayder N.A., Nikolayeva T.Y., Boroeva E.N., Pshennikova G.M., Luginov N.V., Panina Y.S.Copyright ©; 2013, Шнайдер Н.А., Николаева Т.Я., Бороева Е.Н., Пшенникова Г.М., Лугинов Н.В., Панина Ю.С.2013Shnayder N.A., Nikolayeva T.Y., Boroeva E.N., Pshennikova G.M., Luginov N.V., Panina Y.S.Шнайдер Н.А., Николаева Т.Я., Бороева Е.Н., Пшенникова Г.М., Лугинов Н.В., Панина Ю.С.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/40

The paper considers current approaches to the clinical laboratory diagnosis of limb-girdle muscular dystrophy with emphasis on its autosomal dominant forms. The authors describe their clinical observation of a case of late diagnosis of the pelvifemoral form of autosomal dominant limbgirdle muscular dystrophy in a 37-year-old patient.

В статье рассматриваются современные подходы к клинико-лабораторной диагностике конечностно-поясной мышечной дистрофии с акцентом на аутосомно-доминантные формы заболевания. Авторами представлено собственное клиническое наблюдение случая с поздней диагностикой пельвиофеморальной формы конечностно-поясной мышечной дистрофии с аутосомно-доминантным типом наследования у пациентки 37 лет. 

neuromuscular disorderErb's muscular dystrophylimb-girdle muscular dystrophyprogressive muscular dystrophymyotilinopathylaminopathycaveolinopathyhuman geneticscardiomyopathymuscle magnetic resonance imagingнервно-мышечные болезнимышечная дистрофия Эрбаконечностно-поясная мышечная дистрофияпрогрессирующая мышечная дистрофиямиотилинопатияламинопатиякавеолинопатиягенетика человекакардиомиопатиямагнитно-резонансная томография мышц1. Bushby K.M. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009;9:314–23.Bushby K.M. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009;9:314–23.2. Guglieri M., Straub V., Bushby K., Lochmüller H. Limb-girdle muscular dystrophies. Curr Opin NeurolGuglieri M., Straub V., Bushby K., Lochmüller H. Limb-girdle muscular dystrophies. Curr Opin Neurol2008;21(5):576–84.;21(5):576–84.3. Campbell K.P. Loss of three muscular dystrophies: disruption of cytoskeletonextracellular matrix linkage. Cell 1995;80:675–9.Campbell K.P. Loss of three muscular dystrophies: disruption of cytoskeletonextracellular matrix linkage. Cell 1995;80:675–9.4. Angelini C., Fanin M., Freda P. et al. The clinical spectrum of sarcoglycanopathies. Neurology 1999;52:176–9.Angelini C., Fanin M., Freda P. et al. The clinical spectrum of sarcoglycanopathies. Neurology 1999;52:176–9.5. Carbone I., Bruno C., Sotgia F. et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 2000;54:1373–6.Carbone I., Bruno C., Sotgia F. et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 2000;54:1373–6.6. Bansal D., Miyake K., Vogel S.S. et al. Defective membrane repair in dysferlindeficient muscular dystrophy. Nature 2003;423(6936):168–72.Bansal D., Miyake K., Vogel S.S. et al. Defective membrane repair in dysferlindeficient muscular dystrophy. Nature 2003;423(6936):168–72.7. Branca D. Calpain-related diseases. Biochem Biophys Res Commun 2004;322(4):1098–104.Branca D. Calpain-related diseases. Biochem Biophys Res Commun 2004;322(4):1098–104.8. Ferreiro A., Mezmezian M., Olivé M. et al. Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord 2011;21(6):433–8.Ferreiro A., Mezmezian M., Olivé M. et al. Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord 2011;21(6):433–8.9. Garvey S.M., Liu Y., Miller S.E., Hauser M.A. Myotilin overexpression enhances myopathology in the LGMD1A mouse model. Muscle Nerve 2008;37(5):663–7.Garvey S.M., Liu Y., Miller S.E., Hauser M.A. Myotilin overexpression enhances myopathology in the LGMD1A mouse model. Muscle Nerve 2008;37(5):663–7.10. Hackman P., Vihola A., Haravuori H. et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002;71(3):492–500.Hackman P., Vihola A., Haravuori H. et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002;71(3):492–500.11. Astejada M.N., Goto K., Nagano A. et al. Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. Acta Myol 2007;26(3):159–64.Astejada M.N., Goto K., Nagano A. et al. Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. Acta Myol 2007;26(3):159–64.12. Antoniades L., Eftychiou C., Kyriakides T. et al. Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limbgirdle muscular dystrophy. J Interv Card Electrophysiol 2007;19(1):1–7.Antoniades L., Eftychiou C., Kyriakides T. et al. Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limbgirdle muscular dystrophy. J Interv Card Electrophysiol 2007;19(1):1–7.13. Meryon E. On granular and fatty degeneration of the voluntary muscle. Med Chir Trans 1852:73–85.Meryon E. On granular and fatty degeneration of the voluntary muscle. Med Chir Trans 1852:73–85.14. Leyden E. Klinik der Rukenmarkskrankheiten. Vol. 2. Berlin: Verlag A. Hirschwald, 1876:525–40.Leyden E. Klinik der Rukenmarkskrankheiten. Vol. 2. Berlin: Verlag A. Hirschwald, 1876:525–40.15. Mobius P.J. Uber die hereditaren nervenkrankheiten. Volkmanns Samml Klin 1879;171:1501–31.Mobius P.J. Uber die hereditaren nervenkrankheiten. Volkmanns Samml Klin 1879;171:1501–31.16. Erb W. Uber die "juvenile form" der progressiven Muskelatrophie und ihre Beziehungen zur sogenannten Pseudohypertrophie des Muskeln. Dtsch Arch Klin Med 1884;34:467–519.Erb W. Uber die "juvenile form" der progressiven Muskelatrophie und ihre Beziehungen zur sogenannten Pseudohypertrophie des Muskeln. Dtsch Arch Klin Med 1884;34:467–519.17. Erb W. Dystrophia muscularis progressiva. Klinische und pathologischanatomische Studien. Dtsch Z Nervenheit 1891;1:13–94,173–261.Erb W. Dystrophia muscularis progressiva. Klinische und pathologischanatomische Studien. Dtsch Z Nervenheit 1891;1:13–94,173–261.18. Nevin S. Two cases of muscular degeneration occurring in late adult life, with a review of the recorded cases of late progressive muscular dystrophy (late progressive myopathy). Q J Med 1936;17:51–68.Nevin S. Two cases of muscular degeneration occurring in late adult life, with a review of the recorded cases of late progressive muscular dystrophy (late progressive myopathy). Q J Med 1936;17:51–68.19. Levison H. Dystrophia musculorum progressiva. Clinical and diagnostic criteria, inheritance. Acta Psychiatry Scand 1951;76:7–176.Levison H. Dystrophia musculorum progressiva. Clinical and diagnostic criteria, inheritance. Acta Psychiatry Scand 1951;76:7–176.20. Stevenson A.C. Muscular dystrophy in northern Ireland. I. An account of the condition in fifty-one families. Ann Eugen (London) 1953;18:50–93.Stevenson A.C. Muscular dystrophy in northern Ireland. I. An account of the condition in fifty-one families. Ann Eugen (London) 1953;18:50–93.21. Stevenson A.C. Muscular dystrophy in northern Ireland. II. An account of nine additional families. Ann Hum Genet 1955;19:15964.Stevenson A.C. Muscular dystrophy in northern Ireland. II. An account of nine additional families. Ann Hum Genet 1955;19:15964.22. Walton J.N., Nattrass F.J. On the classification, natural history and treatment of the myopathies. Brain 1954;77:170–231.Walton J.N., Nattrass F.J. On the classification, natural history and treatment of the myopathies. Brain 1954;77:170–231.23. Bradley W.G. The limb-girdle syndrome. In: Vinken P.J., Bruyn G.W., editors. Handbook of Clinical Neurology. Vol. 40. Diseases of muscle. Part I. Amsterdam: North-Holland Publ, 1979:433–469.Bradley W.G. The limb-girdle syndrome. In: Vinken P.J., Bruyn G.W., editors. Handbook of Clinical Neurology. Vol. 40. Diseases of muscle. Part I. Amsterdam: North-Holland Publ, 1979:433–469.24. Грознова О.С., Новиков П.В. Ранняя диагностика поражения сердца при Х- сцепленной форме мышечной дистрофии Эмери–Дрейфуса у детей. Рос вестн перинатолог педиатр 2011;(1):63–78.Грознова О.С., Новиков П.В. Ранняя диагностика поражения сердца при Х- сцепленной форме мышечной дистрофии Эмери–Дрейфуса у детей. Рос вестн перинатолог педиатр 2011;(1):63–78.25. Bushby K.M. Diagnostic criteria of the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromuscul Disord 1995; 5:71–4.Bushby K.M. Diagnostic criteria of the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromuscul Disord 1995; 5:71–4.26. Penttilä S., Palmio J., Suominen T. et al. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology 2012;78:897– 903.Penttilä S., Palmio J., Suominen T. et al. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology 2012;78:897– 903.27. Bushby K.M. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 1999;8:1875–82.Bushby K.M. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 1999;8:1875–82.28. van der Kooi A.J., Frankhuizen W.S., Barth P.G. et al. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology 2007;68(24):2125–8.van der Kooi A.J., Frankhuizen W.S., Barth P.G. et al. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology 2007;68(24):2125–8.29. Lo H.P., Cooper S.T., Evesson F.J. et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18(1):34–44.Lo H.P., Cooper S.T., Evesson F.J. et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18(1):34–44.30. Stensland E., Lindal S., Jonsrud C. et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscul Disord 2011;21(1):41–6.Stensland E., Lindal S., Jonsrud C. et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscul Disord 2011;21(1):41–6.31. Urtasun M., Saenz A., Roudaut C. et al. Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). Brain 1998;121(Pt 9):1735–47.Urtasun M., Saenz A., Roudaut C. et al. Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). Brain 1998;121(Pt 9):1735–47.32. 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(5):808–15.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(5):808–15.33. Kirschner J., Lochmuller H. Sarcoglycanopathies. Handb Clin Neurol 2011;101:41–46.Kirschner J., Lochmuller H. Sarcoglycanopathies. Handb Clin Neurol 2011;101:41–46.34. Nalini A., Gayathri N., Thaha F. et al. Sarcoglycanopathy: clinical and histochemical characteristics in 66 patients. Neurol India 2010;58(5):691–6.Nalini A., Gayathri N., Thaha F. et al. Sarcoglycanopathy: clinical and histochemical characteristics in 66 patients. Neurol India 2010;58(5):691–6.35. Vainzof M., Passos-Bueno M.R., Pavanello R.C. et al. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci 1999;164:44–9.Vainzof M., Passos-Bueno M.R., Pavanello R.C. et al. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci 1999;164:44–9.36. Passos-Bueno M.R., Vainzof M., Moreira E.S., Zatz M. Seven autosomal recessive limbgirdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet 1999;82(5):392–8.Passos-Bueno M.R., Vainzof M., Moreira E.S., Zatz M. Seven autosomal recessive limbgirdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet 1999;82(5):392–8.37. Hackman P., Juvonen V., Sarparanta J. et al. Enrichment of the R77C alphasarcoglycan gene mutation in Finnish LGMD2D patients. Muscle Nerve 2005;31:199–204.Hackman P., Juvonen V., Sarparanta J. et al. Enrichment of the R77C alphasarcoglycan gene mutation in Finnish LGMD2D patients. Muscle Nerve 2005;31:199–204.38. Angelini C., Fanin M., Freda M.P. et al. The clinical spectrum of sarcoglycanopathies. Neurology 1999;52(1):176–9.Angelini C., Fanin M., Freda M.P. et al. The clinical spectrum of sarcoglycanopathies. Neurology 1999;52(1):176–9.39. Amberger J., Bocchini C., Hamosh A. A new face and new challanges for online Mendelian Inheritance in Man (OMIM®). Hum. Mutat 2011;32:564–7.Amberger J., Bocchini C., Hamosh A. A new face and new challanges for online Mendelian Inheritance in Man (OMIM®). Hum. Mutat 2011;32:564–7.40. Selcen D., Engel A.G. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004;62(8):1363–71.Selcen D., Engel A.G. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004;62(8):1363–71.41. Дадали Е.Л., Билева Д.С., Угаров И.В. Клинико-генетическая характеристика наследственных ламинопатий. Анн клин эксперим неврол 2008;2(4);28–33.Дадали Е.Л., Билева Д.С., Угаров И.В. Клинико-генетическая характеристика наследственных ламинопатий. Анн клин эксперим неврол 2008;2(4);28–33.42. Руденская Т.Е., Тверская С.М., Чухрова А.Л. и др. Разнообразие болезней, обусловленных мутациями гена LMNA. Мед генет 2004;(12):569–76.Руденская Т.Е., Тверская С.М., Чухрова А.Л. и др. Разнообразие болезней, обусловленных мутациями гена LMNA. Мед генет 2004;(12):569–76.43. Руденская Т.Е., Поляков А.В., Тверская С.М. и др. Ламинопатии в русских семьях. Мед генет 2008;(2):127–133.Руденская Т.Е., Поляков А.В., Тверская С.М. и др. Ламинопатии в русских семьях. Мед генет 2008;(2):127–133.44. D'Amico A., Benedetti S., Petrini S. et al. Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. Neuromuscul Disord 2005;15:847–50.D'Amico A., Benedetti S., Petrini S. et al. Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. Neuromuscul Disord 2005;15:847–50.45. Aboumousa A., Hoogendijk J., Charlton R. et al. Caveolinopathy – new mutations and additional symptoms. Neuromuscul Disord 2008;18(7):572–8.Aboumousa A., Hoogendijk J., Charlton R. et al. Caveolinopathy – new mutations and additional symptoms. Neuromuscul Disord 2008;18(7):572–8.46. Fulizio L., Nascimbeni A.C., Fanin M. et al. Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat 2005;25(1):82–9.Fulizio L., Nascimbeni A.C., Fanin M. et al. Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat 2005;25(1):82–9.47. Hackman P., Sandell S., Sarparanta J. et al. Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. Neuromuscul Disord 2011;21(5):338–44.Hackman P., Sandell S., Sarparanta J. et al. Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. Neuromuscul Disord 2011;21(5):338–44.48. Messina D.N., Speer M.C., Pericak-Vance M.A. et al. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 1997;61(4):909–17.Messina D.N., Speer M.C., Pericak-Vance M.A. et al. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 1997;61(4):909–17.49. Palenzuela L., Andreu A.L., Gamez J. et al. A novel autosomal dominant limbgirdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 2003;61(3):404–6.Palenzuela L., Andreu A.L., Gamez J. et al. A novel autosomal dominant limbgirdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 2003;61(3):404–6.50. Starling A., Kok F., Passos-Bueno M.R. et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004;12(12):1033–40.Starling A., Kok F., Passos-Bueno M.R. et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004;12(12):1033–40.51. Bisceglia L., Zoccolella S., Toracco A. et al. A new locus on 3p23-p25 for an autosomal dominant limb-girdle muscular dystrophy, LGMD1H. Europ J Hum Genet 2010;18:636–41.Bisceglia L., Zoccolella S., Toracco A. et al. A new locus on 3p23-p25 for an autosomal dominant limb-girdle muscular dystrophy, LGMD1H. Europ J Hum Genet 2010;18:636–41.52. Muchir A., Bonne G., van der Kooi A.J. et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000;9(9):1453–9.Muchir A., Bonne G., van der Kooi A.J. et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000;9(9):1453–9.53. Kramerova I., Beckmann J.S., Spencer M.J. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta 2007;1772(2):128–44.Kramerova I., Beckmann J.S., Spencer M.J. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta 2007;1772(2):128–44.54. Mendell J.R., Rodino-Klapac L.R., Rosales X.Q. et al. Sustained alphasarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 2010;68(5):629–38.Mendell J.R., Rodino-Klapac L.R., Rosales X.Q. et al. Sustained alphasarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 2010;68(5):629–38.55. Nigro V., de Sa Moreira E., Piluso G. et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996;14:195–8.Nigro V., de Sa Moreira E., Piluso G. et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996;14:195–8.56. Moreira E.S., Wiltshire T.J., Faulkner G. et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163–6.Moreira E.S., Wiltshire T.J., Faulkner G. et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163–6.57. Saccone V., Palmieri M., Passamano L. et al. Mutations that impair interaction properties of TRIM32 associated with limbgirdle muscular dystrophy type 2H. Hum. Mutat 2008;29:240–7.Saccone V., Palmieri M., Passamano L. et al. Mutations that impair interaction properties of TRIM32 associated with limbgirdle muscular dystrophy type 2H. Hum. Mutat 2008;29:240–7.58. Рыжкова О.П., Шаркова И.В., Дадали Е.Л. и др. Клинико-генетический анализ поясно-конечностной прогрессирующей мышечной дистрофии типа 2I. Журн неврол психиатр 2012;(6):55–9.Рыжкова О.П., Шаркова И.В., Дадали Е.Л. и др. Клинико-генетический анализ поясно-конечностной прогрессирующей мышечной дистрофии типа 2I. Журн неврол психиатр 2012;(6):55–9.59. Pénisson-Besnier I., Hackman P., Suominen T. et al. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol Neurosurg Psychiatry 2010;81(11):1200–2.Pénisson-Besnier I., Hackman P., Suominen T. et al. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. J Neurol Neurosurg Psychiatry 2010;81(11):1200–2.60. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011;21(3):161–71.Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011;21(3):161–71.61. Дадали Е.Л., Руденская Т.Е., Щагина О.А. и др. Мерозин-дефицитная врожденная мышечная дистрофия (ВМД1А). Журн неврол психиатр 2010;3:83–9.Дадали Е.Л., Руденская Т.Е., Щагина О.А. и др. Мерозин-дефицитная врожденная мышечная дистрофия (ВМД1А). Журн неврол психиатр 2010;3:83–9.62. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009;9(6):314–23.Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009;9(6):314–23.63. Zhang Y., Huang J.J., Wang Z.Q. et al. Value of muscle enzyme measurement in evaluating different neuromuscular diseases. Clin Chim Acta 2012;413(3–4):520–4.Zhang Y., Huang J.J., Wang Z.Q. et al. Value of muscle enzyme measurement in evaluating different neuromuscular diseases. Clin Chim Acta 2012;413(3–4):520–4.64. AdyanT., Ryzkova O., Polyakov A. Limbgirdle muscular dystrophies with autosomal dominant inheritance. Eur J Neurology 2012;19:383–3.AdyanT., Ryzkova O., Polyakov A. Limbgirdle muscular dystrophies with autosomal dominant inheritance. Eur J Neurology 2012;19:383–3.65. Trabelsi M., Kavian N., Daoud F. et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet 2008;16(7):793–803.Trabelsi M., Kavian N., Daoud F. et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet 2008;16(7):793–803.66. Stramare R., Beltrame V., Dal Borgo R. et al. MRI in the assessment of muscular pathology: a comparison between limbgirdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med 2010;115(4):585–99.Stramare R., Beltrame V., Dal Borgo R. et al. MRI in the assessment of muscular pathology: a comparison between limbgirdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med 2010;115(4):585–99.67. Fischer D., Walter M.C., Kesper K. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005;252:538–47.Fischer D., Walter M.C., Kesper K. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005;252:538–47.68. Preston D.C., Shapiro B.E. Needle electromyography. Fundamentals, normal and abnormal patterns. Neurol Clin 2002;20(2):361–96.Preston D.C., Shapiro B.E. Needle electromyography. Fundamentals, normal and abnormal patterns. Neurol Clin 2002;20(2):361–96.69. Derry K.L., Venance S.L., Doherty T.J. Decomposition-based quantitative electromyography in the evaluation of muscular dystrophy severity. Muscle Nerve 2012;45(4):507–13.Derry K.L., Venance S.L., Doherty T.J. Decomposition-based quantitative electromyography in the evaluation of muscular dystrophy severity. Muscle Nerve 2012;45(4):507–13.70. Подагова Е.В., Дадали Е.Л., Мальмберг С.А. и др. Особенности диагностики псевдогипертрофических вариантов поясно-конечностных прогрессирующих мышечных дистрофий. Неврол журн 2007;12(1):24–8.Подагова Е.В., Дадали Е.Л., Мальмберг С.А. и др. Особенности диагностики псевдогипертрофических вариантов поясно-конечностных прогрессирующих мышечных дистрофий. Неврол журн 2007;12(1):24–8.71. Poppe M., Bourke J., Eagle M. et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 2004;56:38–41.Poppe M., Bourke J., Eagle M. et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol 2004;56:38–41.72. Wahbi K., Meune C., Hamouda el H. et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord 2008;18(8):650–5.Wahbi K., Meune C., Hamouda el H. et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord 2008;18(8):650–5.73. D'Angelo M.G., Romei M., Lo Mauro A. et al. Respiratory pattern in an adult population of dystrophic patients. J Neurol Sci 2011;306(1–2):54–61.D'Angelo M.G., Romei M., Lo Mauro A. et al. Respiratory pattern in an adult population of dystrophic patients. J Neurol Sci 2011;306(1–2):54–61.74. Stübgen J.P., Ras G.J., Schultz C.M., Crowther G. Lung and respiratory muscle function in limb girdle muscular dystrophy. Thorax 1994;49(1):61–5.Stübgen J.P., Ras G.J., Schultz C.M., Crowther G. Lung and respiratory muscle function in limb girdle muscular dystrophy. Thorax 1994;49(1):61–5.75. Lacomis D. The utility of muscle biopsy. Curr Neurol Neurosci Rep 2004;4(1):81–6.Lacomis D. The utility of muscle biopsy. Curr Neurol Neurosci Rep 2004;4(1):81–6.76. Mitsuhashi S., Kang P.B. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012;19(4):211–8.Mitsuhashi S., Kang P.B. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012;19(4):211–8.77. Awater C., Zerres K., Rudnik-Schöneborn S. Pregnancy course and outcome in women with hereditaryAwater C., Zerres K., Rudnik-Schöneborn S. Pregnancy course and outcome in women with hereditaryneuromuscular disorders: comparison of obstetric risks in 178 patients. Eur J Obstet Gynecol Reprod Biol2012;162(2):153–9.;162(2):153–9.78. Oygard K., Haestad H., Jørgensen L. Physiotherapy, based on the Bobath concept, may influence the gait pattern in persons with limb-girdle muscle dystrophy: a multiple case series study. Physiother Res Int 2011;16(1):20–31.Oygard K., Haestad H., Jørgensen L. Physiotherapy, based on the Bobath concept, may influence the gait pattern in persons with limb-girdle muscle dystrophy: a multiple case series study. Physiother Res Int 2011;16(1):20–31.79. Грознова О.С., Тренева М.С. Генетические аспекты возникновения жизнеугрожаемых состояний у больных с миопатией. Рос вестн перинатолог педиатр 2011;56(5):38–41.Грознова О.С., Тренева М.С. Генетические аспекты возникновения жизнеугрожаемых состояний у больных с миопатией. Рос вестн перинатолог педиатр 2011;56(5):38–41.80. Shapiro F., Specht L. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. J Bone Joint Surg Am 1993;75(3):439–54.Shapiro F., Specht L. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. J Bone Joint Surg Am 1993;75(3):439–54.81. Eggers S., Zatz M. Social adjustment in adult males affected with progressive muscular dystrophy. Am J Med Genet 1998;81:4–12.Eggers S., Zatz M. Social adjustment in adult males affected with progressive muscular dystrophy. Am J Med Genet 1998;81:4–12.82. Nishiyama A., Ampong B.N., Ohshima S. et al. Recombinant adenoassociated virus type 8-mediated extensive therapeutic gene delivery into skeletal muscle of alpha-sarcoglycan-deficient mice. Hum Gene Ther 2008;19(7):719–30.Nishiyama A., Ampong B.N., Ohshima S. et al. Recombinant adenoassociated virus type 8-mediated extensive therapeutic gene delivery into skeletal muscle of alpha-sarcoglycan-deficient mice. Hum Gene Ther 2008;19(7):719–30.83. Nigro V., Aurino S., Piluso G. Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol 2011;24(5):429–36.Nigro V., Aurino S., Piluso G. Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol 2011;24(5):429–36.84. Norwood F., de Visser M., Eymard B. et al. EFNS Guideline Task Force. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007;14(12):1305–12.Norwood F., de Visser M., Eymard B. et al. EFNS Guideline Task Force. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007;14(12):1305–12.