Article
SURF1-associated Leigh syndrome: a case series and novel mutations.
Human mutation - 1 Aug 2012
Lee Inn-Chi, El-Hattab Ayman W, Wang Jing, Li Fang-Yuan, Weng Shao-Wen, Craigen William J, Wong Lee-Jun C
Abstract excerpt
Leigh syndrome (LS) is a mitochondrial disease that typically presents in infancy with subacute neurodegenerative encephalopathy. It is genetically heterogeneous, but mutations in the complex IV assembly genes, particularly SURF1, are an important cause. In this study, SURF1 gene was sequenced in 590 patients with clinical suspicion of LS, complex IV deficiency, or clinical features of mitochondrial disorders. We...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Electron Transport Complex IV
- Exons
- Female
- Humans
- Infant
- Leigh Disease
- Male
- Membrane Proteins
- Mitochondrial Proteins
- Mutation
- Young Adult