肌营养不良
无症状的
肌营养不良蛋白
外显子
医学
表型
儿科
遗传学
病理
基因
生物
内科学
作者
A. Heald,Louise V.B. Anderson,K. Bushby,Pamela J. Shaw
出处
期刊:Neurology
[Ovid Technologies (Wolters Kluwer)]
日期:1994-12-01
卷期号:44 (12): 2388-2388
被引量:58
标识
DOI:10.1212/wnl.44.12.2388
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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