Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy

Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy

The algorithm of differential diagnosis of the two most common genetic variants the limb-girdle muscular dystrophy (LGMD2A and DMD), developed on the basis of a comprehensive survey of 85 patients with a diagnosis specification using techniques of DNA analysis. It is shown that the accurate diagnosi...

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Bibliographic Details
Main Authors: I. V. Sharkova, E. L. Dadali, I. V. Ugarov, O. P. Ryzhkova, A. V. Polyakov
Format: Article
Language:Russian
Published: ABV-press 2015-09-01
Series:Нервно-мышечные болезни
Subjects:
limb-girdle progressive muscular dystrophies
duchenne / becker progressive muscular dystrophy
kalpainopathy
dystrophinopathies
gene capn3
gene dmd
large joints contractures
calf muscles pseudohypertrophy
medical genetic counseling
Online Access:https://nmb.abvpress.ru/jour/article/view/123
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