Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene

J Neurol Sci. 2012 Aug 15;319(1-2):158-63. doi: 10.1016/j.jns.2012.05.003. Epub 2012 May 24.

Abstract

We report a novel heteroplasmic mutation p.Y440C in the mitochondrial DNA-encoded subunit I of the cytochrome c oxidase (COX) gene in a patient with late onset progressive painless weakness. Her muscle biopsy showed scattered COX-negative fibers and several small collections of inflammatory cells. The mutation was detected in the patient's muscle but not in her blood. The low mutant load in muscle could explain the patient's late onset of the myopathy and milder phenotype when compared to the previously published cases with MTCO1 mutations.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Electron Transport Complex IV / genetics*
  • Electron Transport Complex IV / metabolism
  • Female
  • Humans
  • Middle Aged
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / metabolism
  • Mitochondrial Myopathies / pathology
  • Muscle Weakness / genetics*
  • Muscle Weakness / metabolism
  • Muscle Weakness / pathology
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology*
  • Mutation, Missense*

Substances

  • Electron Transport Complex IV