A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

J Neurol. 2012 Jan;259(1):172-4. doi: 10.1007/s00415-011-6113-y. Epub 2011 Jun 12.
No abstract available

Publication types

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

MeSH terms

  • Accidents, Traffic
  • Amino Acid Sequence
  • Brain / pathology
  • DNA / genetics
  • Erythrocytes / enzymology
  • Female
  • Gastrointestinal Diseases / enzymology
  • Gastrointestinal Diseases / genetics*
  • Gastrointestinal Diseases / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Mitochondrial Encephalomyopathies / enzymology
  • Mitochondrial Encephalomyopathies / genetics*
  • Mitochondrial Encephalomyopathies / pathology
  • Molecular Sequence Data
  • Mutation
  • Paresthesia / etiology
  • Peptide Chain Elongation, Translational / genetics
  • Peptide Chain Elongation, Translational / physiology
  • Thymidine Phosphorylase / genetics*
  • Thymidine Phosphorylase / physiology*
  • Young Adult

Substances

  • DNA
  • Thymidine Phosphorylase