The first concurrent detection of mitochondrial DNA m.3243A > G mutation, deletion, and depletion in a family with mitochondrial diabetes

ConclusionOur study points out, for the first time, a severe phenotypic expression of the m.3243A>G point mutation in association with mtDNA deletion and depletion in MD.

Source: Molecular Genetics & Genomic Medicine - May 10, 2020 Category: Genetics & Stem Cells Authors: Mouna Tabebi, Wajdi Safi, Rahma Felhi, Olfa Alila Fersi, Leila Keskes, Mohamed Abid, Mouna Mnif, Faiza Fakhfakh Tags: ORIGINAL ARTICLE Source Type: research