The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy

Abstract

It is suggested that the 2336T>C mutation is one of pathogenic mutations of HCM. This is the first report of mitochondrial 16S rRNA 2336T>C mutation and an association with maternally inherited HCM combined with AVB. Our findings provide a new insight into the pathogenesis of HCM.