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Article

Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report.

BMC medical genetics - 23 Dec 2015

Trenkwalder Teresa, Deisenhofer Isabel, Hadamitzky Martin, Schunkert Heribert, Reinhard Wibke

Abstract excerpt

BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms the diagnosis of ARVC is still challenging and requires clinical testing and expert knowledge. Genetic testing of index patients is helpful in the primary diagnosis and further testing of family...

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Source

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Identifiers

PMID: 26701096
DOI: 10.1186/s12881-015-0263-1
PMCID: PMC4690428

Genes

PKP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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