Article
The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.
Clinical genetics - 1 Apr 2013
Hodgkinson K A, Connors S P, Merner N, Haywood A, Young T-L, McKenna W J, Gallagher B, Curtis F, Bassett A S, Parfrey P S
Abstract excerpt
To determine the phenotype and natural history of a founder genetic subtype of autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a p.S358L mutation in TMEM43. The age of onset of cardiac symptoms, clinical events and test abnormalities were studied in 412 subjects (258 affected and 154 unaffected), all of which occurred in affected males significantly earlier and more often than...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.