The Muscular Dystrophies

被引：59

作者：

Flanigan, Kevin M. ^{[1
,2
]}

机构：

[1] Ohio State Univ, Nationwide Childrens Hosp, Ctr Gene Therapy, Dept Pediat,Res Inst, Columbus, OH 43205 USA

[2] Ohio State Univ, Nationwide Childrens Hosp, Ctr Gene Therapy, Dept Neurol,Res Inst, Columbus, OH 43205 USA

来源：

SEMINARS IN NEUROLOGY | 2012年 / 32卷 / 03期

关键词：

muscular dystrophy; dystrophinopathy; facioscapulohumeral; limb-girdle; HOME NOCTURNAL VENTILATION; SELENOPROTEIN-N GENE; MUSCLE DISEASE; FACIOSCAPULOHUMERAL DYSTROPHY; DEFECTIVE GLYCOSYLATION; ALPHA-DYSTROGLYCAN; SEQUENCE-ANALYSIS; SARCOGLYCAN GENE; BETHLEM MYOPATHY; MOUSE MODEL;

D O I：

10.1055/s-0032-1329199

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

The muscular dystrophies are disorders of progressive muscular degeneration and weakness. As a group they display clinical heterogeneity that reflects the heterogeneity of molecular mechanisms responsible for them, and range from congenital to adulthood onset. Recent advances in the field include improved methods of diagnosis, continued identification of disease genes, and the development of a unified model of pathogenesis in facioscapulohumeral dystrophy. These advances are reflected in the development of new therapeutic approaches, some of which have already led to clinical trials in the dystrophinopathies and limb-girdle dystrophies.

引用

页码：255 / 263

页数：9

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