Article
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.
American journal of human genetics - 1 Oct 1991
Noer A S, Sudoyo H, Lertrit P, Thyagarajan D, Utthanaphol P, Kapsa R, Byrne E, Marzuki S
Abstract excerpt
Skeletal muscle mtDNA of three patients with mitochondrial encephalomyopathy, characterized clinically by myoclonic epilepsy and ragged-red fiber (MERRF) syndrome, has been sequenced to determine the underlying molecular defect(s). An A-to-G substitution of nt 8344 in the tRNA(Lys) gene, a substi...
Topics
- Adult
- Base Sequence
- Cloning, Molecular
- DNA, Mitochondrial
- Epilepsies, Myoclonic
- Female
- Genetic Variation
- Humans
- Male
- Middle Aged
- Mitochondria, Muscle
- Molecular Sequence Data
- Muscles
- Muscular Diseases
- Mutation