Novel and known mtDNA substitutions in patients with mitochondrial encephalomyopathies.

Asterisks (*) indicate the variants that are heteroplasmic. ND1, ND2, ND3, ND4 and ND5 are subunits of NADH dehydrogenase (Complex-I). COX-I and COX-III are the subunits of Cytochrome C oxidase (Complex-IV), AD/PD is Alzeimer's Disease and Parkinsons's Disease. Provisional status indicates that only one group has reported the mutation as pathologic. P.M. (point mutation / polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic polymorphism. mtDB is Human Mitochondrial genome database (http://www.genpat.uu.se/mtDB).