Article
Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.
Journal of the neurological sciences - 1 Jan 1994
Sweeney M G, Hammans S R, Duchen L W, Cooper J M, Schapira A H, Kennedy C R, Jacobs J M, Youl B D, Morgan-Hughes J A, Harding A E
Abstract excerpt
An 18-year-old male patient presented with clinical and radiological evidence of Leigh's syndrome (LS), having developed progressive myoclonic epilepsy and ataxia 11 years previously. Muscle biopsy showed cytochrome oxidase deficiency but no ragged red fibres. Autopsy confirmed the diagnosis of L...
Topics
- Adolescent
- Base Sequence
- Brain
- DNA, Mitochondrial
- Epilepsies, Myoclonic
- Humans
- Leigh Disease
- Magnetic Resonance Imaging
- Male
- Molecular Sequence Data
- Mutation