Sunday 1 January 2012
It was localized in a hot-spot region for mutations and is possibly pathogenic because of a cosegregation with the matrilineal transmission of idiopathic dilated cardiomyopathy.
A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy. Mahjoub S, Sternberg D, Boussaada R, Filaut S, Gmira F, Mechmech R, Jardel C, Arab SB. Diagn Mol Pathol. 2007 Dec;16(4):238-42. PMID: 18043288