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

Neuromuscul Disord. 2001 Jul;11(5):481-4. doi: 10.1016/s0960-8966(01)00195-x.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Deglutition Disorders / genetics*
  • Female
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Point Mutation*
  • RNA, Transfer, Ala / chemistry
  • RNA, Transfer, Ala / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer, Ala