An autosomal dominant early adult-onset distal muscular dystrophy

被引：0
|
作者：
Zimprich, F
Djamshidian, A
Hainfellner, JA
Budka, H
Zeitlhofer, J
机构：
[1] Univ Vienna, Neurol Klin, Allgemeines Krankenhaus Stadt Wien, A-1090 Vienna, Austria
[2] Univ Vienna, Inst Neurol, A-1010 Vienna, Austria
来源：
MUSCLE & NERVE | 2000年 / 23卷 / 12期
关键词：
autosomal dominant distal myopathy; differential diagnosis; electrophysiology; histopathology; muscular dystrophy;
D O I：
10.1002/1097-4598(200012)23:12<1876::AID-MUS13>3.0.CO;2-A
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
In this study we describe an autosomal dominant distal muscular dystrophy in a small Austrian family. The myopathy started in early adulthood with a slowly progressive weakness of the muscles of the anterior tibial compartment, followed by the long finger extensors and sternocleidomastoids in some family members. Other muscles were spared. Histopathology showed fiber size variation and autophagic vacuoles. This disease pattern is similar to Laing distal myopathy, which has been described previously in only one other family. (C) 2000 John Wiley & Sons, Inc.
引用
收藏
页码：1876 / 1879
页数：4
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