Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

被引：157

作者：

Goldfarb, Lev G. ^{[1
]}

Dalakas, Marinos C. ^{[2
]}

机构：

[1] Natl Inst Neurol Disorders & Stroke, NIH, Bethesda, MD 20892 USA

[2] Univ London Imperial Coll Sci Technol & Med, London, England

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2009年 / 119卷 / 07期

关键词：

ALPHA-B-CRYSTALLIN; UBIQUITIN-PROTEASOME SYSTEM; HELICAL COILED COILS; INTERMEDIATE-FILAMENTS; RESTRICTIVE CARDIOMYOPATHY; FAMILIAL CARDIOMYOPATHY; MYOFIBRILLAR MYOPATHY; MISSENSE MUTATIONS; PROLINE RESIDUES; MUTANT DESMIN;

D O I：

10.1172/JCI38027

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Muscle fiber deterioration resulting in progressive skeletal muscle weakness, heart failure, and respiratory distress occurs in more than 20 inherited myopathies. As discussed in this Review, one of the newly identified myopathies is desminopathy, a disease caused by dysfunctional mutations in desmin, a type III intermediate filament protein, or all-crystallin, a chaperone for desmin. The range of clinical manifestations in patients with desminopathy is wide and may overlap with those observed in individuals with other myopathies. Awareness of this disease needs to be heightened, diagnostic criteria reliably outlined, and molecular testing readily available; this would ensure prevention of sudden death from cardiac arrhythmias and other complications.

引用

页码：1806 / 1813

页数：8

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