Article
Mitochondrial DNA mutations in human disease.
American journal of medical genetics - 1 Jan 2001
DiMauro S, Schon E A
Abstract excerpt
The small, maternally inherited mitochondrial DNA (mtDNA) has turned out to be a Pandora's box of pathogenic mutations: 13 years into the era of "molecular mitochondrial medicine," more than 100 pathogenic point mutations and innumerable rearrangements have been associated with a striking variety of multisystemic as well as tissue-specific human diseases. After reviewing the principles of mitochondrial genetics,...
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