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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