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
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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