Article
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24
31 Jan 2019
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown. Here, we show that mutations in KLHL24 cause HCM in humans. Using genome-wide linkage analysis and exome sequencing, we identified homozygous mutations in KLHL24 in two consanguineous families with HCM. Of the 11 young affected adults identified, 3 died suddenly and...
Topics
Join the communities discussing this publication.