MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (CMD1A): CLINICAL CASE OF CONGENITAL MUSCULAR DYSTROPHY INVOLVING CENTRAL NERVOUS SYSTEM

MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (CMD1A): CLINICAL CASE OF CONGENITAL MUSCULAR DYSTROPHY INVOLVING CENTRAL NERVOUS SYSTEM

Congenital muscular dystrophies (CMDs) are an extremely heterogenous group of neuromuscular diseases. The article presents the general information on clinical and pathogenetic aspects of CMD diagnosis with emphasis on one of the most common forms of nervous system disturbances — merosin-deficient co...

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Bibliographic Details
Main Authors: O. A. Klochkova, A. L. Kurenkov, A. M. Mamed'yarov
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2014-07-01
Series:Педиатрическая фармакология
Subjects:
congenital muscular dystrophy
merosin-deficient muscular dystrophy
cmd1a
merosin
lama2
floppy infant syndrome
myopathies
electromyography
magnetic resonance imaging
muscle biopsy
creatine phosphokinase
neuromuscular diseases
Online Access:https://www.pedpharma.ru/jour/article/view/77
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