Article
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
Annals of neurology - 1 Sept 1996
Taylor R W, Chinnery P F, Haldane F, Morris A A, Bindoff L A, Wilson J, Turnbull D M
Abstract excerpt
We describe a patient with the mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) phenotype in whom initial investigations in skeletal muscle failed to show any histochemical or biochemical defect. Subsequent analysis of the mitochondrial genome identified a new heteroplasmic mutation in the valine transfer RNA gene, the first described in this region.
Topics
- Adolescent
- Base Sequence
- DNA, Mitochondrial
- Genes
- Humans
- MELAS Syndrome
- Male
- Molecular Sequence Data
- Phenotype
- Point Mutation
- RNA, Transfer
- Valine