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Article

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy.

Circulation - 2 Aug 2005

Norman Mark, Simpson Michael, Mogensen Jens, Shaw Anthony, Hughes Sîan, Syrris Petros, Sen-Chowdhry Srijita, Rowland Edward, Crosby Andrew, McKenna William J

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities of the right ventricle (RV). Several disease loci have been identified. Mutations in desmoplakin have recently been isolated in both autosomal-dominant and autosomal-recessive forms of ARVC. Primary left ventricular (LV) variants of the...

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Identifiers

PMID: 16061754
DOI: 10.1161/CIRCULATIONAHA.104.532234

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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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