Article
Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.
Australian and New Zealand journal of medicine - 1 Apr 1994
Jean-Francois M J, Lertrit P, Berkovic S F, Crimmins D, Morris J, Marzuki S, Byrne E
Abstract excerpt
BACKGROUND: Point mutations in the mitochondrial (mt) genome underlie a number of neurological disorders. Some are well defined including the myoclonus epilepsy ragged red fibre syndrome (MERRF) and the mitochondrial encephalopathy lactic acidosis stroke like episode syndrome (MELAS). However, ot...
Topics
- Adult
- DNA, Mitochondrial
- Deafness
- Female
- Gene Expression
- Genetic Variation
- Humans
- MELAS Syndrome
- Male
- Middle Aged
- Mitochondrial Encephalomyopathies
- Ophthalmoplegia, Chronic Progressive External
- Phenotype
- Point Mutation