Article
Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.
Neuromuscular disorders : NMD - 1 Jun 1998
Moslemi A R, Tulinius M, Holme E, Oldfors A
Abstract excerpt
We investigated the distribution in skeletal muscle of mitochondrial DNA (mtDNA) with the tRNA(Lys) A8344G mutation, which is associated with myoclonus epilepsy and ragged red fibres (MERRF) syndrome. Isolated muscle fibre segments (n = 144) from six individuals of two different families carrying...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- DNA, Mitochondrial
- Electron Transport Complex IV
- Female
- Histocytochemistry
- Humans
- Male
- Muscle Fibers, Skeletal
- Mutation
- Pedigree
- Polymerase Chain Reaction
- RNA, Transfer, Lys
