Article
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
Annals of neurology - 1 Jan 1999
De Coo I F, Renier W O, Ruitenbeek W, Ter Laak H J, Bakker M, Schägger H, Van Oost B A, Smeets H J
Abstract excerpt
Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene. In 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and st...
Topics
- Adult
- Blotting, Southern
- Cytochrome b Group
- DNA Mutational Analysis
- Electron Transport Complex III
- Gene Deletion
- Humans
- MELAS Syndrome
- Male
- Mitochondria
- Oxidative Phosphorylation
- Parkinson Disease, Secondary