Article
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.
Biochimica et biophysica acta - 24 Apr 1995
Nijtmans L G, Barth P G, Lincke C R, Van Galen M J, Zwart R, Klement P, Bolhuis P A, Ruitenbeek W, Wanders R J, Van den Bogert C
Abstract excerpt
Deficiency of cytochrome c oxidase activity was established in a girl born to consanguineous parents. She showed symptoms of dysmaturity, generalized hypotonia, myoclonic seizures and progressive respiratory failure, leading to death on the seventh day of life. Structural abnormalities of the cen...
Topics
- Cells, Cultured
- Consanguinity
- Cytochrome-c Oxidase Deficiency
- Electron Transport Complex IV
- Female
- Fibroblasts
- Humans
- Infant, Newborn
- Kinetics
- Mitochondrial Encephalomyopathies
- Mutation