Articles with "phenotype tmem43" as a keyword



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

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Published in 2020 at "Heart rhythm"

DOI: 10.1016/j.hrthm.2020.01.035

Abstract: 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 non-desmosomal gene TMEM43 - endemic to Newfoundland,… read more here.

Keywords: ventricular cardiomyopathy; phenotype tmem43; right ventricular; background ... See more keywords