Facioscapulohumeral muscular dystrophy

被引：14

作者：

Tawil R. ^{[1
]}

机构：

[1] Department of Neurology, Univ. Rochester Sch. Med./Dentistry, Rochester, NY 14642-8673

来源：

Current Neurology and Neuroscience Reports | 2004年 / 4卷 / 1期

关键词：

Muscular Dystrophy; Muscle Nerve; Creatine Monohydrate; 4q35 Gene; Facioscapulohumeral Muscular Dystrophy;

D O I：

10.1007/s11910-004-0012-x

中图分类号：

学科分类号：

摘要：

Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited muscular dystrophy with a distinctive clinical presentation, Despite the identification of a causal deletion on chromosome 4q35 over a decade ago, the molecular pathophysiology of FSHD remains unclear. The deleted repeats, though clearly associated with FSHD, do not contain expressed genes. The FSHD-associated deletions must, therefore, influence the expression of one or more genes at a distance from the site of the deletion. Recent studies have suggested potential mechanisms through which such a distant effect could be mediated. Copyright © 2004 by Current Science Inc.

引用

页码：51 / 54

页数：3

共 28 条

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