Hereditary Neuromuscular Diseases. Part 2. Muscular Dystrophies: Limb-Girdle Types, Distal, Oculopharyngeal and Oculopharyngodistal Forms
https://doi.org/10.30629/2658-7947-2020-25-1-13-22
Abstract
Written ofmodern classification ofmuscular dystrophies (in modification), clinical-genetic peculiarities and diagnostics of basic types ofmuscular dystrophies (limb-girdle types, distal types, ocylopharyngeal and oculopharyngodistal).
About the Authors
V. M. Kazakov
First Pavlov State Medical University; City Hospital 2
Russian Federation
Russian Federation
Department of Neurology F. Pavlov SMU; Department of Neuromuscular Diseases, CH 2.
St. Petersburg
A. A. Skoromets
First Pavlov State Medical University
Russian Federation
Russian Federation
Department of Neurology.
St. PetersburgD. I. Rudenko
First Pavlov State Medical University; City Hospital 2
Russian Federation
Russian Federation
Department of Neurology F. Pavlov SMU; Department of Neuromuscular Diseases, CH 2.
St. Petersburg
T. R. Stuchevskaya
First Pavlov State Medical University; City Hospital 2
Russian Federation
Russian Federation
Department of Neurology F. Pavlov SMU; Department of Neuromuscular Diseases, CH 2.
St. PetersburgV. O. Kolynin
First Pavlov State Medical University; City Hospital 2
Russian Federation
Russian Federation
Department of Neurology F. Pavlov SMU; Department of Neuromuscular Diseases, CH 2.
St. Petersburg
References
1. Bushby K., Beckmann R. Workshop about pathogenesis of dis-ferlinopathy, caveolinopathy, calpainopathy. Neuromuscul. Disord. 2003;13(1):80-90.
2. KaplanJ.L., Hamroun D. Gene table of monogenic neuromuscular disorders (nuclear genome only). Neuromuscul. Disord. 2014;24(12):1127-1153.
3. Ozawa E., Noguchi S., Mizuno et al. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve. 1998;21(4):421-428.
4. Kazakov V., Muntoni F., Dubowitz V et al. Calpainopathy. Report of a case from Russia. Abstract. XXXTH Oxford Symposium on muscle disease, Department of Neuropathology and neurology, Oxford, UK, 22-23 July 2005.
5. Paradas C., Conzalez-Quereda L., De Luna N. et al. A new phenotype of dyspherlinopathy with congenital onset. Neuromuscul. Disord. 2009;19(1):21—25.
6. Diers A., Carl M., Stoltenburg-Didinger G. et al. Painful enlargement of the calf muscles in limbs girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Neuromuscul. Disord. 2007;17(2):157-162.
7. Angelini C., Grisold W., Nigro V. Diagnosis of protein analysis of disferlinopathy in two patients mistaken as polymyositis. Acta Myol. 2011,XXX:185-187.
8. Olive M., Shatunov A.Q., Gonzalez L. et al. Transcription-terminating in telethonin causing autosomal recessive muscular dystr4ophy type 2C in European patient. Neuromuscul. Disord. 2008;18(12):929-933.
9. Ohsawa Y, Okada A., Kuga A. et al. Caveolin-3 regulars myo-statin signaling. Mini-review. Acta Myol. 2008;XXVH:19-24.
10. Harriet P.Lo., Bertini E., Mirabella M. et al. Mosaic caveoline-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor antibodies. Nero-muscul. Disord. 2011;21(3):194—203.
11. Aboumousa A., Hoogendijk J., Charlton R. et al. Caveolinopa-thy-New mutations and additional symptoms. Neuromuscul. Disord. 2008;18(7):572-578.
12. Kazakov V.M., Rudenko D.I. Stuchevskaya T.R. Vladimir Karlovich Roth (1848-1916): the founder of neuromuscular diseases studies in Russia. Acta Myol. 2014;33(1):34-42. (Cited in Scopus).
13. Welander L. Myopathia distalis tarda hereditary 249 examined cases in 72 pedigrees Stockholm: Esselte aktiebolag. 1951, 124 p.
14. Udd B. Distal myopathy. In: Handbook of Clinical Neurology (Mastaglia, Hilton Jones ed.). 2007;86:216-241.
15. Hackman P, Marchand S., Sarparanta J. et al. Truncating Mutations in c-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul. Disord. 2008;18(12):922-928.
16. Somer H., Udd B. Distal myopathies. In: Neuromuscular Disorders: Clinical and Molecular Genetics (Ed. A.E.H. Emery), Chichester: Wiley; 1998:181-201.
17. Sunohara N., Nonaka I., Kamei N. et al. Distal myopathy with rimmed vacuole formation. Brain. 1989;112:65-83.
18. Bouchard J-P., Brais B., Tome F.M.S. Oculopharyngeal muscular dystrophy. In: Neuromuscular Disorders: Clinical and Molecular Genetics (Ed. A.E.H. Emery), Chichester: Wiley;1998:157-174.
19. Thevathasan W., Squier W., Maclver D.H. et al. Oculopharyngo-distal myopathy — A possible association with cardiomyopathy. Neuromuscul. Disord. 2011;21:121-125.
20. Bonne G., Rivier F., Hamroun D. Gene table of monogenic neuromuscular disorders (nuclear genome only). Neuromuscul. Disord. 2019;29(12):980-1018.
Review
For citations:
Kazakov V.M., Skoromets A.A., Rudenko D.I., Stuchevskaya T.R., Kolynin V.O. Hereditary Neuromuscular Diseases. Part 2. Muscular Dystrophies: Limb-Girdle Types, Distal, Oculopharyngeal and Oculopharyngodistal Forms. Russian neurological journal. 2020;25(1):13-22. (In Russ.) https://doi.org/10.30629/2658-7947-2020-25-1-13-22
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