Gilchrist J M, Leshner R T
Arch Neurol. 1986 Jul;43(7):734-5. doi: 10.1001/archneur.1986.00520070088026.
Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: early and unusual contractures; humeroperoneal muscle wasting; the slow progression of weakness, beginning in childhood; cardiac conduction defects; and X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent autosomal dominant inheritance. We postulate separate genetic disorders with similar phenotypic expression.
埃默里-德赖富斯肌营养不良症是一种具有五个显著特征的综合征:早期出现且不寻常的挛缩;肱腓肌萎缩;始于儿童期的肌无力缓慢进展;心脏传导缺陷;以及X连锁遗传。我们报告了两例病例,并详细介绍了其他具有类似发现且明显为常染色体显性遗传的报告。我们推测存在具有相似表型表达的不同遗传疾病。