Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

被引：44

作者：

Hoogerwaard, EM

Ginjaar, IB

Bakker, E

de Visser, M

机构：

[1] Rijnstate Hosp, Dept Neurol, NL-6800 TA Arnhem, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1012 WX Amsterdam, Netherlands

[3] Leiden Univ, Ctr Med, Dept Human & Clin Genet, NL-2300 RA Leiden, Netherlands

来源：

NEUROLOGY | 2005年 / 65卷 / 12期

关键词：

D O I：

10.1212/01.wnl.0000188909.89849.59

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Associations between clinical phenotype (muscle weakness, dilated cardiomyopathy) and dystrophin abnormalities in muscle tissue among definite carriers of Duchenne (DMD) and Becker muscular dystrophy (BMD) were investigated. No associations between dystrophin abnormalities and clinical variables in DMD/BMD carriers were found. Because 26% of nonmanifesting carriers have dystrophin-negative fibers, this might be used in suspected DMD/BMD carriers in whom DNA analysis fails to give an answer about their carrier risk.

引用

收藏

页码：1984 / 1986

页数：3

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