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

Autor:	Dominguez F, Zorio E, Jimenez-Jaimez J, Salguero-Bodes R, Zwart R, Gonzalez-Lopez E, Molina P, Bermúdez-Jiménez F, Delgado JF, Braza-Boïls A, Bornstein B, Toquero J, Segovia J, Van Tintelen JP, Lara-Pezzi E, Garcia-Pavia P
Rok vydání:	2020
Předmět:	Arrhythmia Arrhythmogenic right ventricular cardiomyopathy Exercise Genetics TMEM43
Zdroj:	Heart Rhythm r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname
ISSN:	1547-5271
Popis:	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 whether the disease is influenced by genetic or environmental factors.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::4f547a4f0b62ac6d66b7a676cd0725a4 https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12061 Zobrazit plný text záznamu