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...

Full description

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:
поясно-конечностные прогрессирующие мышечные дистрофии
прогрессирующая мышечная дистрофия дюшенна–беккера
кальпаинопатия
дистрофинопатия
ген capn3
ген dmd
контрактуры крупных суставов
псевдогипертрофии икроножных мышц
Online Access:https://nmb.abvpress.ru/jour/article/view/123

Internet

https://nmb.abvpress.ru/jour/article/view/123

Similar Items