MOLECULAR ANALYSIS FOR THE MYOTONIC-DYSTROPHY MUTATION IN NEUROMUSCULAR DISORDERS

被引：2

作者：

MACMILLAN, JC ^{[1
]}

MYRING, J ^{[1
]}

HARLEY, HG ^{[1
]}

REARDON, W ^{[1
]}

HARPER, PS ^{[1
]}

SHAW, DJ ^{[1
]}

机构：

[1] UNIV WALES COLL MED, INST MED GENET, CARDIFF CF4 4XN, S GLAM, WALES

来源：

NEUROMUSCULAR DISORDERS | 1992年 / 2卷 / 5-6期

关键词：

MYOTONIC DYSTROPHY; MUTATION; UNSTABLE DNA; PREDICTION;

D O I：

10.1016/S0960-8966(06)80012-X

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A variable expansion of an unstable CTG repeat has been identified as the causal mutation for myotonic dystrophy. Standard molecular genetic techniques can now supplement traditional assessment protocols in a variety of clinical neurological situations where diagnostic uncertainty prevailed. Southern analysis using DNA probes which identify the expanded sequence, supplemented by direct PCR analysis for repeat number, provides a specific sensitive diagnostic test for myotonic dystrophy.

引用

页码：405 / 411

页数：7

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