ISOLATED MANIFESTING CARRIER OF DUCHENNE MUSCULAR-DYSTROPHY

被引：0
|
作者：
PADMA, MV [1 ]
JAIN, S [1 ]
SARKAR, C [1 ]
MAHESHWARI, MC [1 ]
机构：
[1] ALL INDIA INST MED SCI,DEPT NEUROL & NEUROPATHOL,NEW DELHI 110029,INDIA
来源：
NEUROLOGY INDIA | 1995年 / 43卷 / 01期
关键词：
MUSCULAR DYSTROPHY; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHINOPATHY; MANIFESTING CARRIER;
D O I：
暂无
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
A manifesting female carrier of Duchenne muscular dystrophy (DMD) with no prior family history of DMD is described. She presented with proximal muscle weakness, enlarged calf muscles and an elevated serum creatine phospokinase (CPK). Histological myopathic changes and immunoperoxidase examination for dystrophy in muscle biopsy with anti-dystrophin serum proved to be valuable in the diagnosis of DMD in a manifesting female carrier.
引用
收藏
页码：42 / 44
页数：3
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