CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene

Neurology. 2001 Dec 26;57(12):2298-301. doi: 10.1212/wnl.57.12.2298.


In the muscle biopsy of a female patient with chronic progressive external ophthalmoplegia (CPEO), myopathy, and exercise intolerance, the heteroplasmic deletion of a single nucleotide (DeltaT5885) in the mitochondrial tRNA tyrosine gene (tRNA(Tyr)) was found. The mutation was associated with the mitochondrial phenotype of individual muscle fibers, suggesting a causal association of DeltaT5885 with the mitochondrial disease phenotype. The microdeletion was absent from the patient's and her relatives' blood, indicating a spontaneous somatic origin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Humans
  • Mitochondria, Muscle / pathology*
  • Nucleotides / genetics*
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / pathology
  • RNA, Transfer, Tyr / genetics*
  • Sequence Deletion / genetics*


  • Nucleotides
  • RNA, Transfer, Tyr