Article
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
Lancet (London, England) - 1 Jun 1991
Hammans S R, Sweeney M G, Brockington M, Morgan-Hughes J A, Harding A E
Abstract excerpt
Point mutations of mitochondrial DNA have been described in the muscle of patients with syndromes of myoclonic epilepsy and ragged red fibres (MERRF) and of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS). We have found the MERRF mutation in members of 6 British kindreds; 2 of these had unusual phenotypes but all index patients had myoclonus. The MELAS mutation was detected in...
Topics
- Acidosis, Lactic
- Adolescent
- Adult
- Ataxia
- Brain Diseases
- Cerebrovascular Disorders
- Child
- Child, Preschool
- DNA, Mitochondrial
- Epilepsies, Myoclonic
- Humans
- Mitochondria, Muscle