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Truncating Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy Are Associated With Protein Haploinsufficiency in Both Myocardium and Epidermis

5 Apr 2014

Abstract excerpt

BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is a hereditary cardiac condition associated with ventricular arrhythmias, heart failure, and sudden death. The disease is most often caused by mutations in the desmosomal gene for plakophilin-2 (PKP2), which is expressed in both myocardial and epidermal tissue. This study aimed to investigate protein expression in myocardial tissue of patients with AC carrying PKP2...

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PMID: 24704780
DOI: 10.1161/circgenetics.113.000338

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