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

页码：578 / 581

页数：4

共 19 条

[1] RIMMED VACUOLE MYOPATHY SPARING THE QUADRICEPS - A UNIQUE DISORDER IN IRANIAN JEWS [J].