Here, from the sequencing of the entire mitochondrial genome, we report a Korean MELAS family harboring two homoplasmic missense mutations, which were reported 9957T&gt;C (Phe251Leu) transition mutation in the cytochrome c oxidase subunit 3 (COX3) gene and a novel 13849A&gt;C (Asn505His) transversion mutation in the NADH dehydrogenase subunit 5 (ND5) gene.
C0162671
MELAS Syndrome