Pure myopathy associated with a novel mitochondrial tRNA gene mutation

Neurology. 2006 Feb 14;66(3):447-9. doi: 10.1212/01.wnl.0000196490.36349.83.


The authors describe a 47-year-old man who presented with proximal muscle weakness, myalgia, elevated creatine kinase, and features of a pure myopathic syndrome in whom they have identified a novel mutation in the mitochondrial tRNA(Ala) gene. This 5591G>A transition is heteroplasmic, segregates with cytochrome c oxidase deficiency in single muscle fibers, and fulfills recognized criteria for pathogenicity. This case exemplifies the wide-ranging clinical spectrum of mitochondrial disease presentations.

Publication types

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

MeSH terms

  • Creatine Kinase / blood
  • Exercise
  • Histocytochemistry
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / complications
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Mitochondrial Myopathies / physiopathology
  • Muscle Weakness / etiology
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Mutation*
  • Pain / etiology
  • RNA, Transfer, Ala*
  • Syndrome


  • RNA, Transfer, Ala
  • Creatine Kinase