Article
Clinical spectrum and diagnosis of mitochondrial disorders.
American journal of medical genetics - 1 Jan 2001
Munnich A, Rustin P
Abstract excerpt
Respiratory chain deficiencies have long been regarded as neuromuscular diseases mostly originating from mutations in the mitochondrial DNA. Actually, oxidative phosphorylation, i.e., adenosine triphosphate (ATP) synthesis-coupled electron transfer from substrate to oxygen through the respiratory chain, does not only occur in the neuromuscular system. For this reason, a respiratory chain deficiency can...
Topics
- Adult
- Cell Nucleus
- Child
- DNA
- DNA, Mitochondrial
- Humans
- Magnetic Resonance Spectroscopy
- Mitochondrial Diseases
- Models, Biological
- Mutation
- Oxidation-Reduction
- Oxygen