Publication:
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia (1997)
Author(s): P. F. Chinnery;M. A. Johnson;R. W. Taylor;W. F. Durward;D. M. Turnbull
- : A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia
Abstract: We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle. Sequencing of all the mitochondrial transfer RNA (tRNA) genes identified a single potentially pathogenic mutation--a T to C transition at position 4274 in the tRNA(Ile) gene. This mutation was not present in skeletal muscle from 79 controls, and the level of the mutation in COX-negative fibers was significantly greater than the level in COX-positive fibers.
Notes: 0028-3878 Case Reports Journal Article
- Short Title: A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia
- Date: Oct
- Journal: Neurology
- Volume: 49
- Issue: 4
- Pages: 1166-8
- Publication type: Article
- Bibliographic status: Published
- Author Address: Department of Neurology, University of Newcastle upon Tyne, UK.
- URL: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9339712
Keywords: Adult Chronic Disease Cytochrome-c Oxidase Deficiency Disease Progression Electron Transport Complex IV/metabolism Female Humans Isoleucine/*genetics Muscle Fibers/enzymology Muscle, Skeletal/enzymology Ophthalmoplegia/enzymology/*genetics/*physiopathology *Point Mutation RNA/*genetics RNA, Transfer/*genetics
|
Professor Patrick Chinnery
|
|
