MYOTONIC-DYSTROPHY WITH NO TRINUCLEOTIDE REPEAT EXPANSION

被引：152

作者：

THORNTON, CA ^{[1
]}

GRIGGS, RC ^{[1
]}

MOXLEY, RT ^{[1
]}

机构：

[1] UNIV ROCHESTER,SCH MED & DENT,CTR NEUROMUSC DIS,DEPT NEUROL,ROCHESTER,NY 14642

来源：

ANNALS OF NEUROLOGY | 1994年 / 35卷 / 03期

关键词：

D O I：

10.1002/ana.410350305

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report 3 patients from 2 families with myotonic dystrophy who do not show an abnormal expansion of CTG trinucleotide repeats within the myotonic dystrophy gene. Characteristic features of myotonic dystrophy in these patients were frontal balding, cataracts, cardiac conduction abnormalities, and testicular atrophy with myotonia and muscle weakness. Results of muscle histopathology were consistent with myotonic dystrophy. Genetic analysis of leukocyte and muscle DNA showed a normal number of CTG repeats. The demonstration of normal CTG repeat number for the myotonic dystrophy gene does not exclude the diagnosis of myotonic dystrophy.

引用

页码：269 / 272

页数：4

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