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Article

Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain.

The FEBS journal - 1 Jun 2015

Huang Wenrui, Liang Jingsheng, Yuan Chen-Ching, Kazmierczak Katarzyna, Zhou Zhiqun, Morales Ana, McBride Kim L, Fitzgerald-Butt Sara M, Hershberger Ray E, Szczesna-Cordary Danuta

Abstract excerpt

Dilated cardiomyopathy (DCM) is a disease of the myocardium characterized by left ventricular dilatation and diminished contractile function. Here we describe a novel DCM mutation in the myosin regulatory light chain (RLC), in which aspartic acid at position 94 is replaced by alanine (D94A). The mutation was identified by exome sequencing of three adult first-degree relatives who met formal criteria for...

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Identifiers

PMID: 25825243
DOI: 10.1111/febs.13286
PMCID: PMC4472530

Genes

MYL2

Provenance

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