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Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

7 Nov 2012

Abstract excerpt

AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a major cause of juvenile sudden death and is characterized by fibro-fatty replacement of the right ventricle. Mutations in several genes encoding desmosomal proteins have been identified in ARVC. We speculated that αT-catenin, encoded by CTNNA3, might also carry mutations in ARVC patients. Alpha-T-catenin binds plakophilins and this binding...

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PMID: 23136403
DOI: 10.1093/eurheartj/ehs373

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