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Article

Desmin-related myopathy.

Clinical genetics - 1 Oct 2011

van Spaendonck-Zwarts K Y, van Hessem L, Jongbloed J D H, de Walle H E K, Capetanaki Y, van der Kooi A J, van Langen I M, van den Berg M P, van Tintelen J P

Abstract excerpt

Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We provide (i) a literature review on DRM, including clinical manifestations, inheritance, molecular genetics, myopathology and management and (ii) a meta-analysis of reported DES mutation carriers, focusing on their clinical characteristics and potential...

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Source

Identifiers

PMID: 20718792
DOI: 10.1111/j.1399-0004.2010.01512.x

Genes

DES

Provenance

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Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (<i>DES</i>)-Associated CardiomyopathySemantic proximity Read ↗

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