Article
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).
American journal of human genetics - 1 Dec 1992
Boulet L, Karpati G, Shoubridge E A
Abstract excerpt
We investigated the distribution and expression of mutant mtDNAs carrying the A-to-G mutation at position 8344 in the tRNA(Lys) gene in the skeletal muscle of four patients with myoclonus epilepsy and ragged-red fibers (MERRF). The proportion of mutant genomes was greater than 80% of total mtDNAs in muscle samples of all patients and was associated with a decrease in the activity of cytochrome c oxidase (COX)....
Topics
- Adult
- Cells, Cultured
- DNA, Mitochondrial
- Electron Transport Complex IV
- Electrophoresis, Polyacrylamide Gel
- Epilepsies, Myoclonic
- Female
- Flow Cytometry
- Gene Expression
- Humans
- Male