Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.

doi:10.1093/eurheartj/ehl184

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Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.

European heart journal - 1 Sept 2006

Antoniades Loizos, Tsatsopoulou Adalena, Anastasakis Aris, Syrris Petros, Asimaki Angeliki, Panagiotakos Demosthenes, Zambartas Costas, Stefanadis Christodoulos, McKenna William J, Protonotarios Nikos

Abstract excerpt

AIMS: To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2) and plakoglobin (JUP), respectively. METHODS AND RESULTS: One hundred and eighty-seven individuals belonging to ARVC families, four with dominant PKP2 mutations and 12...

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Identifiers

PMID: 16893920
DOI: 10.1093/eurheartj/ehl184

Genes

JUP
PKP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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