%0 Journal Article
%T Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0026-6
%X Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNALeu (UUR) (MTTL1) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencing of MTTL1. This mutation has been previously reported in 5 cases, of which 2 cases had the MELAS phenotype. Our case also strengthens the hypothesis that the m.3243A>T mutation can cause the MELAS phenotype
%U https://www.nature.com/articles/s41439-018-0026-6