AN UNUSUAL VARIANT OF BECKER MUSCULAR-DYSTROPHY

被引：19
|
作者：
DEVISSER, M
BAKKER, E
DEFESCHE, JC
BOLHUIS, PA
VANOMMEN, GJ
机构：
[1] UNIV AMSTERDAM,DEPT NEUROL,AMSTERDAM,NETHERLANDS
[2] UNIV AMSTERDAM,DEPT EXPTL MED,AMSTERDAM,NETHERLANDS
[3] LEIDEN STATE UNIV,DEPT HUMAN GENET,2312 AV LEIDEN,NETHERLANDS
来源：
ANNALS OF NEUROLOGY | 1990年 / 27卷 / 05期
关键词：
D O I：
10.1002/ana.410270521
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report on 5 brothers with slowly progressive limbgirdle weakness. Calf hypertrophy was absent. The levels of creatine kinase, electromyography, and findings from a muscle biopsy specimen were compatible with muscular dystrophy. The propositus's biopsy specimen also showed numerous rimmed vacuoles. DNA analysis revealed a deletion in the dystrophin gene, establishing a diagnosis of Becker muscular dystrophy. Both the absence of calf hypertrophy and the presence of rimmed vacuoles are unusual features in this disorder. Copyright © 1990 American Neurological Association
引用
收藏
页码：578 / 581
页数：4
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