Article
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243.
Human molecular genetics - 1 Mar 1994
Petruzzella V, Moraes C T, Sano M C, Bonilla E, DiMauro S, Schon E A
Abstract excerpt
A single mtDNA point mutation at nt 3243 has been associated with two different clinical phenotypes: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ('MELAS3243') and progressive external ophthalmoplegia ('PEO3243'). It has been shown that there is a much higher proportion of ragged-red fibers (RRF) with cytochrome c oxidase (COX) deficiency in PEO3243 than in MELAS3243. Using PCR/RFLP...
Topics
- Analysis of Variance
- Cytochrome-c Oxidase Deficiency
- DNA, Mitochondrial
- Electron Transport Complex IV
- Humans
- MELAS Syndrome
- Muscles
- Mutation
- Ophthalmoplegia, Chronic Progressive External
- Phenotype