The genetic architecture of Plakophilin 2 cardiomyopathy.

doi:10.1038/s41436-021-01233-7

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Article

The genetic architecture of Plakophilin 2 cardiomyopathy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021

Dries Annika M, Kirillova Anna, Reuter Chloe M, Garcia John, Zouk Hana, Hawley Megan, Murray Brittney, Tichnell Crystal, Pilichou Kalliopi, Protonotarios Alexandros, Medeiros-Domingo Argelia, Kelly Melissa A, Baras Aris, Ingles Jodie, Semsarian Christopher, Bauce Barbara, Celeghin Rudy, Basso Cristina, Jongbloed Jan D H, Nussbaum Robert L, Funke Birgit, Cerrone Marina, Mestroni Luisa, Taylor Matthew R G, Sinagra Gianfranco, Merlo Marco, Saguner Ardan M, Elliott Perry M, Syrris Petros, van Tintelen J Peter, James Cynthia A, Haggerty Christopher M, Parikh Victoria N

Abstract excerpt

PURPOSE: The genetic architecture of Plakophilin 2 (PKP2) cardiomyopathy can inform our understanding of its variant pathogenicity and protein function. METHODS: We assess the gene-wide and regional association of truncating and missense variants in PKP2 with arrhythmogenic cardiomyopathy (ACM), and arrhythmogenic right ventricular cardiomyopathy (ARVC) specifically. A discovery data set compares genetic testing...

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Identifiers

PMID: 34120153
DOI: 10.1038/s41436-021-01233-7
PMCID: PMC8486657

Genes

PKP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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