Article
Mitochondrial encephalomyopathies.
Journal of neuropathology and experimental neurology - 1 Mar 2003
Oldfors Anders, Tulinius Már
Abstract excerpt
Mitochondrial encephalomyopathies are diseases caused by defective oxidative phosphorylation (OXPHOS), and affect the nervous system and/or skeletal muscle. They have emerged as a major entity among the neurometabolic diseases of childhood with an incidence of 1 in 11,000 children, and also have a high prevalence in adults. The first pathogenic mutation of human mitochondrial DNA (mtDNA) was discovered in 1988....
Topics
- Animals
- DNA, Mitochondrial
- Humans
- Mitochondrial Encephalomyopathies
- Mutation