Serratrice G, Pouget J
Rev Neurol (Paris). 1986;142(10):766-70.
Emery-Dreifuss myopathy is characterized by the association of early muscle contractures, atrophy predominant on the scapulohumeroperoneal muscles, secondary cardiac conduction anomalies and an X-linked heredity. The case presented here had features corresponding to these criteria except in two respects: the patient was a female, and transmission was of the dominant autosomal type. Three similar families have been reported. This genetic heterogeneity together with doubt as to the exact nature of muscle anomalies, suggests that the syndrome should be termed amyotrophy syndrome with early contractures and secondary cardiac conduction abnormalities with a variable heredity.
埃默里-德赖富斯肌病的特征是早期肌肉挛缩、肩胛肱腓肌为主的萎缩、继发性心脏传导异常以及X连锁遗传。此处呈现的病例除了两个方面外符合这些标准：患者为女性，且遗传方式为常染色体显性遗传。已报道了三个类似的家族。这种遗传异质性以及对肌肉异常确切性质的疑问，表明该综合征应称为具有早期挛缩和继发性心脏传导异常且遗传方式可变的肌萎缩综合征。
