Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

Neurogenetics. 2011 Aug;12(3):259-61. doi: 10.1007/s10048-011-0284-7. Epub 2011 Apr 12.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Substitution
  • Base Sequence
  • Eukaryotic Initiation Factor-2B / genetics*
  • Female
  • Humans
  • Leukoencephalopathies / epidemiology
  • Leukoencephalopathies / genetics*
  • Leukoencephalopathies / pathology
  • Male
  • Middle Aged
  • Mutation, Missense / physiology
  • Nerve Degeneration / genetics*
  • Nerve Degeneration / pathology
  • Protein Isoforms / genetics

Substances

  • Eukaryotic Initiation Factor-2B
  • Protein Isoforms