Article
[Application of new techniques for locating the underlying molecular defects in patients with disorders of oxidative phosphorylation].
Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie - 1 Jan 2007
Van Coster R, Smet J
Abstract excerpt
The oxidative phosphorylation (OXPHOS) is a system that generates ATP by the transfer of electrons through the complexes of the respiratory chain. Mitochondria are very abundant in organs with high energy demand, including skeletal muscle, heart muscle and brain. The incidence of OXPOS defects is estimated at 1/10,000. Most frequently, a myopathy, encephalopathy or encephalomyopathy is seen. Mutations in the...
Topics
- DNA, Mitochondrial
- Electrophoresis, Polyacrylamide Gel
- Humans
- Metabolism, Inborn Errors
- Mitochondria, Liver
- Mitochondria, Muscle
- Mutation
- Oxidative Phosphorylation
- Spectrophotometry