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Article

Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population.

European journal of human genetics : EJHG - 1 May 2016

Christensen Alex Hørby, Kamstrup Pia Rørbœk, Gandjbakhch Estelle, Benn Marianne, Jensen Jan Skov, Bundgaard Henning, Villard Eric, Tybjærg-Hansen Anne

Abstract excerpt

A rare genetic variant in the desmosomal gene plakophilin-2 (PKP2) c.419C>T(p.(S140F)) has repeatedly been identified in patients with dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). Whether this is a disease-causing variant remains highly controversial. We tested this hypothesis using three approaches. Initially, in a prospective study of 10 407 individuals from the...

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Source

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Identifiers

PMID: 26264440
DOI: 10.1038/ejhg.2015.171
PMCID: PMC4930081

Genes

PKP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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