AUTOSOMAL RECESSIVE DUCHENNE-LIKE MUSCULAR-DYSTROPHY - MOLECULAR AND HISTOCHEMICAL RESULTS

被引：10
|
作者：
MCGUIRE, SA [1 ]
FISCHBECK, KH [1 ]
机构：
[1] UNIV PENN,MED CTR,DEPT NEUROL,PHILADELPHIA,PA 19104
来源：
MUSCLE & NERVE | 1991年 / 14卷 / 12期
关键词：
AUTOSOMAL RECESSIVE MUSCULAR DYSTROPHY; DYSTROPHIN; LIMB-GIRDLE DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY;
D O I：
10.1002/mus.880141212
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
An autosomal recessive disorder which mimics Duchenne muscular dystrophy has long been suspected as a cause of muscular dystrophy in karyotypically normal girls and in both boys and girls with consanguineous parents. Analysis of dystrophin now allows confirmation of the existence of this disorder. We report the results of this analysis in a brother and sister who have the typical clinical features of Duchenne muscular dystrophy, but no demonstrable abnormality in dystrophin or its gene.
引用
收藏
页码：1209 / 1212
页数：4
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