Article
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
Annals of neurology - 1 Aug 1999
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz K D, Comi G P, Uziel G, Zeviani M, Meitinger T
Abstract excerpt
Mutations of SURF-1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency of cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain. To investigate to what extent SURF-1 is responsible for human disorders because of COX deficiency, we undertook sequence analysis of the SURF-1 gene in 46 unrelated...
Topics
- Child, Preschool
- Cytochrome-c Oxidase Deficiency
- Electron Transport Complex IV
- Female
- Fibroblasts
- Humans
- Infant
- Infant, Newborn
- Leigh Disease
- Male