The congenital muscular dystrophies in 2004: a century of exciting progress

被引：159

作者：

Muntoni, F

Voit, T

机构：

[1] Univ London Imperial Coll Sci Technol & Med, Sch Med, Dubowitz Neuromuscular Unit, Dept Paediat & Neonatal, London W12 0NN, England

[2] Univ Hosp Essen, Dept Pediat & Pediat Neurol, D-45122 Essen, Germany

来源：

NEUROMUSCULAR DISORDERS | 2004年 / 14卷 / 10期

关键词：

congenital muscular dystrophy; glycosylation; dystroglycan; extracellular matrix; neuronal migration;

D O I：

10.1016/j.nmd.2004.06.009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The congenital muscular dystrophies are a heterogeneous group of inherited disorders. The clinical features range from severe and often early fatal disorders to relatively mild conditions compatible with survival into adult life. The recent advances in the genetic basis of congenital muscular dystrophies have allowed to significantly improve our understanding of their pathogenesis and clinical diversity. These advances have also allowed to classify these forms according to a combination of clinical features and primary biochemical defects. In this review we present how the congenital muscular dystrophies field has evolved over the last decade from a clinical and genetic point of view. (C) 2004 Elsevier B.V. All rights reserved.

引用

页码：635 / 649

页数：15

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