What's new in neuromuscular disorders? The congenital myopathies

被引：29

作者：

Jungbluth, H

Sewry, CA

Muntoni, F

机构：

[1] Hammersmith Hosp, Imperial Coll Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England

[2] Guys Hosp, Dept Paediat Neurol, Newcomen Ctr, London SE1 9RT, England

[3] Robert Jones & Agnes Hunt Orthopaed Hosp, Dept Histopathol, Oswestry SY10 7AG, Shrops, England

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2003年 / 7卷 / 01期

关键词：

central core disease; multi-minicore disease; nemaline myopathy; myotubular myopathy; genetics; pathophysiology;

D O I：

10.1016/S1090-3798(02)00136-8

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular myopathy. Recent years have seen genetic resolution of a proportion of these conditions. The following review summarizes recent genetic findings in the congenital myopathies and outlines implications for our understanding of their pathophysiological basis and their relation to other neuromuscular disorders.

引用

页码：23 / 30

页数：8

共 80 条

[1] Excitation-contraction uncoupling by a human central core disease mutation in the ryanodine receptor [J].