Articles with "variants plakophilin" as a keyword



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Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.

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Published in 2021 at "Journal of applied genetics"

DOI: 10.1007/s13353-021-00647-y

Abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins. Variants in plakophilin-2 gene (PKP2) are the most common cause of the disease, associated with conventional ARVC phenotype. The study… read more here.

Keywords: arvc; ventricular cardiomyopathy; right ventricular; pkp2 ... See more keywords