The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a hotbed of pathogenic mutations: 15 years into the era of ‘mitochondrial medicine’, over 150 pathogenic point mutations and countless rearrangements have been associated with a variety of multisystemic or tissue-specific human diseases. MtDNA-related disorders can be divided into two major groups: those due to mutations in genes affecting mitochondrial protein synthesis in toto and those due to mutations in specific protein-coding genes. Here we review the mitochondrial genetics and the clinical features of the mtDNA-related diseases.
Research Article| June 13 2007
Mitochondrial DNA Medicine
Biosci Rep (2007) 27 (1-3): 5–9.
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Salvatore DiMauro; Mitochondrial DNA Medicine. Biosci Rep 13 June 2007; 27 (1-3): 5–9. doi: https://doi.org/10.1007/s10540-007-9032-5
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