Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy
https://doi.org/10.17650/2222-8721-2015-5-3-42-49
Abstract
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 diagnosis of LGMD genetic types should be based on the results of the clinical and genealogical, biochemical and molecular genetic analysis. The proposed algorithm will significantly reduces the economic and time costs with expensive DNA testing.
About the Authors
I. V. Sharkova
Federal State budgetary institution «Research centre for medical genetics»; 1 Moskvorechye St., Moscow, 115478, Russia
Russian Federation
Russian Federation
E. L. Dadali
Federal State budgetary institution «Research centre for medical genetics»; 1 Moskvorechye St., Moscow, 115478, Russia
Russian Federation
Russian Federation
I. V. Ugarov
Department of Urology, A.I. Evdokimov Moscow State University of Medicine and Dentistry; 1 Bldg, 20 Delegatskaya St., Moscow, 127473, Russia
Russian Federation
Russian Federation
O. P. Ryzhkova
Federal State budgetary institution «Research centre for medical genetics»; 1 Moskvorechye St., Moscow, 115478, Russia
Russian Federation
Russian Federation
A. V. Polyakov
Federal State budgetary institution «Research centre for medical genetics»; 1 Moskvorechye St., Moscow, 115478, Russia
Russian Federation
Russian Federation
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Review
For citations:
Sharkova I.V., Dadali E.L., Ugarov I.V., Ryzhkova O.P., Polyakov A.V. Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy. Neuromuscular Diseases. 2015;5(3):42-49. https://doi.org/10.17650/2222-8721-2015-5-3-42-49
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