常见的肌营养不良为X连锁的DMD,另一X连锁类型为BMD。应用DNA探针的连锁分析已证实DMD、BMD为位于Xp21的等位突变基因引起。第三种X连锁的肌营养不良为罕见的Emery-Dreifuss型(E-DMD),其特点为早期发生挛缩和心肌病变,该基因已被定位于Xq27-q28。另外有一种临床症状与DMD相似的儿童肌营养不良,为常染色体隐性遗传病。本文作者报导了一个两兄弟同时患有肌营养不良症的家系,其临床所见不能确定为常染色体隐性遗传或X连锁隐性遗传,并进行了RFLP连锁分析。 Common muscular dystrophy is the X-linked DMD and the other X-linked type is BMD. Linkage analysis using DNA probes has confirmed that DMDs are caused by allelic mutations at Xp21. The third X-linked muscular dystrophy is a rare type of Emery-Dreifuss (E-DMD) characterized by early contracture and cardiomyopathy, which has been mapped to Xq27-q28. In addition there is a clinical symptoms and DMD children with muscular dystrophy, autosomal recessive disease. The authors report a pedigree with both muscular dystrophy and two brothers whose clinical findings could not be identified as autosomal recessive or X-linked recessive inheritance and were analyzed by RFLP linkage.