Article
Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes.
Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis - 1 Jul 2016
Alila Olfa Fersi, Rebai Emna Mkaouar, Tabebi Mouna, Tej Amel, Chamkha Imen, Tlili Abdelaziz, Bouguila Jihene, Tilouche Samia, Soyah Nejla, Boughamoura Lamia, Fakhfakh Faiza
Abstract excerpt
Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. These mutations were described in the mt-tRNA genes and in the mitochondrial protein-coding genes. The aim of this study was to identify the genetic defect in two patients belonging to two families with cardiac dysfunction associated to a wide spectrum of clinical phenotypes. The...
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