Article
Molecular basis of mitochondrial DNA disease.
Journal of bioenergetics and biomembranes - 1 Jun 1994
Brown M D, Wallace D C
Abstract excerpt
Mitochondrial ATP production via oxidative phosphorylation (OXPHOS) is essential for normal function and maintenance of human organ systems. Since OXPHOS biogenesis depends on both nuclear- and mitochondrial-encoded gene products, mutations in both genomes can result in impaired electron transpor...
Topics
- DNA, Mitochondrial
- Genotype
- Humans
- Metabolic Diseases
- Mitochondria
- Mitochondrial Myopathies
- Mutation
- Optic Atrophies, Hereditary
- Oxidative Phosphorylation
- Phenotype
