Article
Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
Annals of neurology - 1 Mar 1993
Tokunaga M, Mita S, Sakuta R, Nonaka I, Araki S
Abstract excerpt
Using in situ hybridization, we studied muscle biopsy specimens from 4 patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Three of the 4 patients with MELAS had a mutation at position 3243 of mitochondrial DNA (mtDNA) in the transfer RNALeu(UUR) gene, and the other patient had a mutation at position 3271 in the same transfer RNALeu(UUR) gene. Quantitative...
Topics
- Blood Vessels
- Cytochrome-c Oxidase Deficiency
- DNA, Mitochondrial
- Humans
- In Situ Hybridization
- MELAS Syndrome
- Muscles
- Mutation
- RNA
- RNA, Messenger
- RNA, Mitochondrial