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

Journal article
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
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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