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  • Title: A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia.
    Author: Spagnolo M, Tomelleri G, Vattemi G, Filosto M, Rizzuto N, Tonin P.
    Journal: Neuromuscul Disord; 2001 Jul; 11(5):481-4. PubMed ID: 11404121.
    Abstract:
    We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia, dysphagia and mild proximal myopathy. The mutation is heteroplasmic and disrupts a highly conserved A-U base pair within the anticodon stem of the tRNA(Ala). Cytochrome c oxidase-negative fibers harbor a significantly higher level of mutated mtDNA than cytochrome c oxidase-positive fibers. This is the first mutation in the tRNA(Ala) gene which satisfies accepted criteria for pathogenicity.
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