Proximal myotonic myopathy: a report of a kindred

被引：5

作者：

Nestor, P

Dennett, X

Day, B

机构：

[1] Alfred Healthcare Grp, Dept Neurol, Prahran, Vic 3181, Australia

[2] Univ Melbourne, State Neuropathol Serv, Parkville, Vic 3052, Australia

来源：

JOURNAL OF CLINICAL NEUROSCIENCE | 1998年 / 5卷 / 02期

关键词：

myopathy; myotonia; PROMM;

D O I：

10.1016/S0967-5868(98)90043-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a family an autosomal dominant myotonic myopathy with absence of the abnormal CTG expansion characteristic of myotonic dystrophy. We believe that the findings in this family concur with those of recent case reports which have postulated the existence of a new adult onset myotonic disorder, distinct from myotonic dystrophy: 'proximal myotonic myopathy'. (C) Harcourt Brace & Co. Ltd 1998.

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收藏

页码：218 / 220

页数：3

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