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Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

27 May 2008

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a frequent genetic cardiac disease and the most common cause of sudden cardiac death in young individuals. Most of the currently known HCM disease genes encode sarcomeric proteins. Previous studies have shown an association between CSRP3 missense mutations and either dilated cardiomyopathy (DCM) or HCM, but all these studies were unable to provide comprehensive genetic...

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PMID: 18505755
DOI: 10.1093/hmg/ddn160

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