A new mutation in the mitochondrial tRNAAla gene in a patient with ophthalmoplegia and dysphagia
M Spagnolo, G Tomelleri, G Vattemi, M Filosto… - Neuromuscular …, 2001 - Elsevier
We describe a new mutation in the tRNAAla 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 AU base pair within the anticodon stem of the tRNAAla. 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 tRNAAla gene which satisfies …
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 AU base pair within the anticodon stem of the tRNAAla. 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 tRNAAla gene which satisfies …