Article
Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene.
Biochemical and biophysical research communications - 28 Oct 1994
Seibel P, Lauber J, Klopstock T, Marsac C, Kadenbach B, Reichmann H
Abstract excerpt
Chronic progressive external ophthalmoplegia (CPEO) is caused by a decreased oxidative phosphorylation (OXPHOS) activity due to large-scale deletions of the mitochondrial genome in 50% of the patients. The deletions encompass structural OXPHOS genes as well as tRNA genes, required for their expre...
Topics
- Base Sequence
- DNA, Mitochondrial
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Ophthalmoplegia, Chronic Progressive External
- Oxidative Phosphorylation
- RNA, Transfer, Asn
- Sequence Homology, Nucleic Acid