BECKER MUSCULAR-DYSTROPHY WITH ONSET AFTER 60 YEARS

被引：54

作者：

HEALD, A

ANDERSON, LVB

BUSHBY, KMD

SHAW, PJ

机构：

[1] UNIV NEWCASTLE UPON TYNE,DIV CLIN NEUROSCI,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLAND

[2] UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLAND

来源：

NEUROLOGY | 1994年 / 44卷 / 12期

关键词：

D O I：

10.1212/WNL.44.12.2388

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report an unusual example of Becker muscular dystrophy in which the patient was asymptomatic until his mid-60s, and diagnosis was not made until he was 67 years old. The patient had the unusual deletion of exons 3 to 9 within an actin-binding region of the dystrophin gene, removal or disruption of which is almost invariably associated with a more severe clinical phenotype. Our case illustrates the danger of drawing conclusions about possibly symptomatic deletions without lifelong follow-up.

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页码：2388 / 2390

页数：3

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