A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype

被引：28

作者：

Goldberg, LR

Hausmanowa-Petrusewicz, I

Fidzianska, A

Duggan, DJ

Steinberg, LS

Hoffman, EP

机构：

[1] Univ Pittsburgh, Sch Med, Dept Mol Genet & Biochem, Pittsburgh, PA 15261 USA

[2] Univ Pittsburgh, Sch Med, Dept Human Genet, Pittsburgh, PA 15261 USA

[3] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15261 USA

[4] Univ Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA 15261 USA

[5] Polish Acad Sci, Med Res Ctr, Neuromuscular Unit, Warsaw, Poland

来源：

ANNALS OF NEUROLOGY | 1998年 / 44卷 / 06期

关键词：

D O I：

10.1002/ana.410440619

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A muscle biopsy from an X-linked muscular dystrophy pedigree showed normal dystrophin and dystrophin-associated proteins. Linkage to multiple markers within the dystrophin gene (LOD = 2.7, Theta = 0) indicated a primary dystrophinopathy. Sequencing of the entire dystrophin RNA revealed a single missense mutation (D3335H) in the unique carboxyl-terminal domain. This is the first report showing that a relatively severe dystrophinopathy can occur despite the correct localization of dystrophin and dystrophin-associated proteins.

引用

页码：971 / 976

页数：6

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