Article
Mitochondrial medicine.
Biochimica et biophysica acta - 6 Dec 2004
Dimauro Salvatore
Abstract excerpt
After reviewing the history of mitochondrial diseases, I follow a genetic classification to discuss new developments and old conundrums. In the field of mitochondrial DNA (mtDNA) mutations, I argue that we are not yet scraping the bottom of the barrel because: (i) new mtDNA mutations are still being discovered, especially in protein-coding genes; (ii) the pathogenicity of homoplasmic mutations is being revisited;...
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