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- Salvatore DiMauro.
- Department of Neurology, Columbia University Medical Center, College of Physicians and Surgeons, New York, NY 10032, USA. sd12@columbia.edu
- Biosci. Rep. 2007 Jun 1; 27 (1-3): 5-9.
AbstractThe 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.
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