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Neuromuscul Disord. 2001 Jul;11(5):481-4.

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia.

Author information

1
Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy.

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.

PMID:
11404121
[Indexed for MEDLINE]

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