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Neurology. 2000 Apr 25;54(8):1693-6.

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

Author information

1
Neurological Institute, Catholic University, Rome, Italy.

Abstract

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 tRNATrp gene.

PMID:
10762520
DOI:
10.1212/wnl.54.8.1693
[Indexed for MEDLINE]

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