PROXIMAL MYOTONIC MYOPATHY - A NEW DOMINANT DISORDER WITH MYOTONIA, MUSCLE WEAKNESS, AND CATARACTS

被引：175

作者：

RICKER, K

KOCH, MC

LEHMANNHORN, F

PONGRATZ, D

OTTO, M

HEINE, R

MOXLEY, RT

机构：

[1] UNIV ROCHESTER, DEPT NEUROL, ROCHESTER, NY 14642 USA

[2] UNIV WURZBURG, DEPT NEUROL, W-8700 WURZBURG, GERMANY

[3] UNIV MARBURG, DEPT HUMAN GENET, W-3550 MARBURG, GERMANY

[4] UNIV ULM, DEPT APPL PHYSIOL, W-7900 ULM, GERMANY

[5] FRIEDRICH BAUR STIFTUNG, DEPT NEUROL, MUNICH, GERMANY

来源：

NEUROLOGY | 1994年 / 44卷 / 08期

关键词：

D O I：

10.1212/WNL.44.8.1448

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the myotonic dystrophy (DM) gene in DNA from blood and muscle. The structure of the three families permitted linkage analysis, and there is no linkage to the gene loci for DM or to the loci for the muscle chloride channel disorders or muscle sodium channel disorders. The collection of symptoms in these three families seems to represent a new disorder.

引用

页码：1448 / 1452

页数：5

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