Article
Diseases of oxidative phosphorylation due to mtDNA mutations.
Seminars in neurology - 1 Sept 2001
DiMauro S, Andreu A L, Musumeci O, Bonilla E
Abstract excerpt
Mitochondrial encephalomyopathies are disorders due to biochemical defects in the respiratory chain, which is under dual genetic control: 13 proteins are encoded by mitochondrial DNA (mtDNA), while all others are encoded by nuclear DNA. In the past 12 years, the small circle of mtDNA has proven to be a Pandora's box of pathogenic mutations, associated with a bewildering variety of multisystemic or tissue-specific...
Topics
- DNA, Mitochondrial
- Education, Medical, Continuing
- Humans
- Mitochondrial Diseases
- Mutation