Widespread tissue distribution of a tRNA Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome

We documented the presence of a newly described point mutation in the tRNA^Leu(UUR) gene of mitochondrial DNA in five postmortem tissues from a patient with MELAS syndrome. The mutation was heteroplasmic, but the percentage of mutant genomes was similar (79 to 88%) in both clinically affected and unaffected tissues.