Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy

Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy

Miyoshi myopathy (MM) is a rare distal form of limb-girdle muscular dystrophies characterized by weakness primarily affecting the calves in adolescence or young adulthood, with slow progression, the ascending pattern of involvement of muscle groups in an atrophic process, and with obvious clinical p...

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Bibliographic Details
Main Authors: V. P. Fedotov, O. P. Ryzhkova, A. V. Polyakov
Format: Article
Language:Russian
Published: ABV-press 2016-03-01
Series:Nervno-Myšečnye Bolezni
Subjects:
miyoshi myopathy
familial case
dysferlinopathy
limb-girdle muscular dystrophies
dysg gene
whole genome sequencing
electromyography
hypercreatine phosphatemia neural amyotrophy
myopathy
missense mutation
Online Access:https://nmb.abvpress.ru/jour/article/view/141

Internet

https://nmb.abvpress.ru/jour/article/view/141

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