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Article

Novel plakophilin2 mutation: three-generation family with arrhythmogenic right ventricular cardiomyopathy.

Scandinavian cardiovascular journal : SCJ - 1 Apr 2012

Aneq Meriam Åström, Fluur Christina, Rehnberg Malin, Söderkvist Peter, Engvall Jan, Nylander Eva, Gunnarsson Cecilia

Abstract excerpt

OBJECTIVES: The autosomal dominant form of arrhythmogenic right ventricular cardiomyopathy (ARVC) has been linked to mutations in desmosomal proteins. A mutation in plakophilin 2 (PKP 2) is a frequent cause for ARVC. We describe a new mutation in the PKP2 gene, the genotype-phenotype variation in this mutation and its clinical consequences. DESIGN: Individuals in a three-generation family were investigated after...

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Source

Identifiers

PMID: 22035158
DOI: 10.3109/14017431.2011.636068

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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