Emery-Dreifuss muscular dystrophy

被引：51

作者：

Helbling-Leclerc, A ^{[1
]}

Bonne, G ^{[1
]}

Schwartz, K ^{[1
]}

机构：

[1] Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10卷 / 03期

关键词：

Emery-Dreifuss muscular dystrophy; lamins A/C; emerin; nuclear envelope;

D O I：

10.1038/sj.ejhg.5200744

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.

引用

页码：157 / 161

页数：5

共 30 条

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