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Article

Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders?

Cardiology - 1 Jan 2010

Christensen Alex Hørby, Benn Marianne, Tybjaerg-Hansen Anne, Haunso Stig, Svendsen Jesper Hastrup

Abstract excerpt

OBJECTIVES: Mutations in genes encoding desmosomal proteins have been linked to arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). We hypothesized that a Scandinavian ARVC/D population would have a different spectrum of plakophilin-2 (PKP2) mutations and that some of the reported missense mutations may not be pathogenic. METHODS: We screened 53 unrelated patients fulfilling Task Force criteria...

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Share to Arrhythmogenic Right Ventricular Dysplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19955750
DOI: 10.1159/000263456

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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