A whole mitochondrial genome screening in a MELAS patient: A novel mitochondrial tRNAVal mutation

► We report a young Tunisian patient with clinical features of MELAS syndrome. ► Reported mitochondrial mutations were absent after a mutational screening of the whole mtDNA. ► We described a novel m.1640A>G mutation in the tRNAVal gene which was absent in 150 controls. ► Mitochondrial deletions and POLG1 gene mutations were absent. ► The m.1640A>G mutation could be associated to MELAS syndrome.