Helbling-Leclerc Anne, Bonne Gisèle, Schwartz Ketty
Inserm U523, Institut de Myologie, GH Pitié-Salpétrière, Paris, France.
Eur J Hum Genet. 2002 Mar;10(3):157-61. doi: 10.1038/sj.ejhg.5200744.
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.
埃默里-德赖富斯肌营养不良症（EDMD）的特征为早期挛缩、缓慢进展的肌肉萎缩和无力，具有独特的肱腓型分布以及导致扩张型心肌病的心脏传导缺陷。已知导致EDMD的基因编码与核膜相关的蛋白质：emerin以及核纤层蛋白A和C。
