Article
Mitochondrial disorders.
Journal of child neurology - 1 Dec 2002
DiMauro Salvatore, Andreu Antoni L, De Vivo Darryl C
Abstract excerpt
Mitochondrial disorders associated with defects in the respiratory chain can be attributable to mutations in the mitochondrial genome (mitochondrial DNA) or the nuclear genome (nuclear DNA). Because the brain is highly dependent on oxidative metabolism, encephalopathy is a common presentation, and epilepsy is a clinical hallmark of many of these conditions. Although most mutations in mitochondrial DNA do not...
Topics
- Cell Nucleus
- DNA, Mitochondrial
- Epilepsy
- Humans
- Infant
- Leigh Disease
- Mutation