Limb-girdle muscular dystrophy

被引：28

作者：

Katherine D. Mathews

Steven A. Moore

机构：

[1] Department of Pediatrics, University of Iowa Hospitals/Clinics, Iowa City, IA 52242

来源：

Current Neurology and Neuroscience Reports | 2003年 / 3卷 / 1期

关键词：

Muscular Dystrophy; Emerin; Congenital Muscular Dystrophy; Becker Muscular Dystrophy; Miyoshi Myopathy;

D O I：

10.1007/s11910-003-0042-9

中图分类号：

学科分类号：

摘要：

The limb-girdle muscular dystrophies (LGMDs) are a group of muscular dystrophies that share a similar clinical phenotype. Despite this clinical homogeneity, at least 15 different genetic forms of LGMD are now known. Some of these share pathogenetic mechanisms with other forms of muscular dystrophy, such as the sarcoglycanopathies (LGMD 2C-F) and the dystrophinopathies (Duchenne and Becker muscular dystrophy). Some are allelic with other forms of muscular dystrophy; LGMD IB is allelic with autosomal dominant Emery-Dreifuss muscular dystrophy. Still others introduce totally unique pathogenetic mechanisms to the study of muscular dystrophy. For example, LGMD 2H appears to be due to mutations affecting the ubiquitin-proteasome pathway. A diagnostic approach is outlined based on clinical features, genetics, and commercially available testing. Copyright © 2003 by Current Science Inc.

引用

页码：78 / 85

页数：7

共 49 条

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