Mitochondrial DNA Medicine

@article{Dimauro2007MitochondrialDM,
  title={Mitochondrial DNA Medicine},
  author={Salvatore Dimauro},
  journal={Bioscience Reports},
  year={2007},
  volume={27},
  pages={5-9}
}
  • S. Dimauro
  • Published 5 May 2007
  • Biology
  • Bioscience Reports
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… 
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