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

Abstract

The results of this study showed that truncating PKP2 mutations in AC are associated with low expression of the mutant allele and that the myocardial protein expression of PKP2 is mirrored in keratinocytes. These findings indicate that PKP2 haploinsufficiency contributes to pathogenesis in AC.