Sites of mtDNA mutations in certain human diseases

This map of human mtDNA shows loci of mutations leading to cytopathies. The transfer RNA genes are represented by single-letter amino acid abbreviations: ND = NADH dehydrogenase; COX = cytochrome C oxidase; and 12S and 16S refer to ribosomal RNAs.

[Data from S. DiMauro et al., “Mitochondria in Neuromuscular Disorders,” Biochim. Biophys. Acta 1366, 1998, 199–210.]