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Article

Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy.

International journal of cardiology - 7 May 2008

Lahtinen Annukka M, Lehtonen Annukka, Kaartinen Maija, Toivonen Lauri, Swan Heikki, Widén Elisabeth, Lehtonen Eero, Lehto Veli-Pekka, Kontula Kimmo

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiac disorder characterized by life-threatening ventricular arrhythmias and fibrofatty replacement of myocardial tissue. Recent data suggest a dominant mode of inheritance in ARVD due to mutations in desmosomal proteins, plakophilin-2 (PKP2) in particular. We carried out a search for PKP2 mutations in the Finnish...

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Topics

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Share to Amino Acid Substitution
Share to Arrhythmogenic Right Ventricular Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to PKP2 gene

Share to Mutation

Share to Mutation, Missense

Share to Pedigree

Share to Plakophilins

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 17521752
DOI: 10.1016/j.ijcard.2007.03.137

Genes

PKP2

Variants

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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