A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features

J Neurol Sci. 2010 Oct 15;297(1-2):105-8. doi: 10.1016/j.jns.2010.06.009. Epub 2010 Aug 13.


Background: Mitochondrial diseases due to mitochondrial tRNA genes mutations are usually multisystem disorders with infantile or adult onset.

Objective: To identify the molecular defect underlying a mitochondrial encephalomyopathy.

Methods/patients: Case report of a 51year-old woman presenting with late-onset myoclonic epilepsy plus additional features. Proband's mother presented hypothyroidism and diabetes.

Results: Muscle biopsy showed mitochondrial changes. Respiratory chain activities were reduced. The novel G5538A mutation was identified in different tissues DNAs from the proband and from her mother.

Conclusion: We were able to identify a novel mtDNA tRNA((Trp)) gene pathogenic mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Electron Transport Complex IV / metabolism
  • Female
  • Humans
  • Magnetic Resonance Imaging / methods
  • Middle Aged
  • Mitochondria / genetics*
  • Mitochondria / pathology
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / pathology
  • Molecular Sequence Data
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Point Mutation / genetics*
  • RNA, Transfer, Trp / genetics*


  • RNA, Transfer, Trp
  • Electron Transport Complex IV