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Article

Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.

Heart rhythm - 1 Jun 2020

Dominguez Fernando, Zorio Esther, Jimenez-Jaimez Juan, Salguero-Bodes Rafael, Zwart Robert, Gonzalez-Lopez Esther, Molina Pilar, Bermúdez-Jiménez Francisco, Delgado Juan F, Braza-Boïls Aitana, Bornstein Belen, Toquero Jorge, Segovia Javier, Van Tintelen J Peter, Lara-Pezzi Enrique, Garcia-Pavia Pablo

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy type V (ARVC-5) is the most aggressive heterozygous form of ARVC. It is predominantly caused by a fully penetrant mutation (p.S358L) in the nondesmosomal gene TMEM43-endemic to Newfoundland, Canada. To date, all familial cases reported worldwide share a common ancestral haplotype. It is unknown whether the p.S358L mutation by itself causes ARVC-5 or...

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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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Identifiers

PMID: 32062046
DOI: 10.1016/j.hrthm.2020.01.035

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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