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| Authors |
Ali-Reza Moslemi Christopher Lindberg J. Toft Elisabeth Holme Gittan Kollberg Anders Oldfors |
|---|---|
| Published in | Neuromuscul Disord |
| Volume | 14 |
| Issue | 1 |
| Pages | 46-50 |
| Publication year | 2004 |
| Published at |
Institute of Laboratory Medicine, Dept of Pathology Institute of Clinical Neurosciences Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine |
| Pages | 46-50 |
| Language | en |
| Links |
dx.doi.org/10.1016/S0960-8966(03)00... |
| Subject categories | Medical and Health Sciences |
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.
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