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Article

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

Human genetics - 1 Nov 2013

Baskin Berivan, Skinner Jon R, Sanatani Shubhayan, Terespolsky Deborah, Krahn Andrew D, Ray Peter N, Scherer Stephen W, Hamilton Robert M

Abstract excerpt

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically identified to cause ARVC type 5 in a founder population from Newfoundland. It is unclear whether...

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Share to Arrhythmias, Cardiac
Share to Arrhythmogenic Right Ventricular Dysplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23812740
DOI: 10.1007/s00439-013-1323-2

Genes

TMEM43

Variants

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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TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.PMID 23812740Read ↗

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