Journal
NEUROLOGY
Volume 54, Issue 8, Pages 1693-1696Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.54.8.1693
Keywords
mitochondrial DNA; cytochrome c oxidase; tRNA(Trp)
Categories
Funding
- Telethon [1121] Funding Source: Medline
Ask authors/readers for more resources
The authors describe a novel pathogenic G5540A transition in the mitochondrial transfer RNA (tRNA)(Trp) gene of a sporadic encephalomyopathy characterized by spinocerebellar ataxia. Clinical features also included neurosensorial deafness, peripheral neuropathy, and dementia. Biochemistry revealed a severe reduction of cytochrome c oxidase (COX) activity. Single-fiber PCR demonstrated higher levels of mutant genomes in COX-negative ragged red fibers than in normal fibers. These findings confirm that COX is more susceptible than other respiratory chain complexes to mutations in the mitochondrial tRNA(Trp) gene.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available