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Article

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.

Circulation - 7 Mar 2006

Pilichou Kalliopi, Nava Andrea, Basso Cristina, Beffagna Giorgia, Bauce Barbara, Lorenzon Alessandra, Frigo Gianfranco, Vettori Andrea, Valente Marialuisa, Towbin Jeffrey, Thiene Gaetano, Danieli Gian Antonio, Rampazzo Alessandra

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive myocardial atrophy with fibrofatty replacement. The recent identification of causative mutations in plakoglobin, desmoplakin (DSP), and plakophilin-2 (PKP2) genes led to the hypothesis that ARVC is due to desmosomal defects. Therefore, desmoglein-2 (DSG2), the only desmoglein isoform...

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Source

Identifiers

PMID: 16505173
DOI: 10.1161/CIRCULATIONAHA.105.583674

Genes

DSG2
DSP
PKP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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