Format

Send to

Choose Destination
Neuromuscul Disord. 2004 Jan;14(1):46-50.

A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy.

Author information

1
Department of Pathology, Sahlgrenska University Hospital, 41345 Göteborg, Sweden. ali-reza.moslemi@path.gu.se

Abstract

We report a novel heteroplasmic T-->C mutation at nt position 582 within the mitochondrial tRNA(Phe) gene of a 70-year-old woman with mitochondrial myopathy. No other family members were affected, suggesting that our patient was a sporadic case. The muscle showed frequent ragged red fibers and 43% cytochrome c oxidase deficient fibers. The mutation alters a conserved base pairing in the aminoacyl acceptor stem. The mutation load was 70% in muscle homogenate and varied from 0 to 95% in individual muscle fiber segments. Cytochrome c oxidase-negative fibers showed significantly higher levels of mutated mtDNA (>75%) than Cytochrome c oxidase-positive fibers (<55%). This mutation adds to the previously described four pathogenic mutations in the tRNA(Phe) gene.

PMID:
14659412
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center