A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E

Neurogenetics. 2005 Feb;6(1):49-50. doi: 10.1007/s10048-004-0202-3. Epub 2005 Jan 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Axons
  • Base Sequence
  • Charcot-Marie-Tooth Disease / classification
  • Charcot-Marie-Tooth Disease / genetics*
  • DNA Primers
  • Female
  • Humans
  • Male
  • Mutation*
  • Neurofilament Proteins / genetics*
  • Reference Values

Substances

  • DNA Primers
  • Neurofilament Proteins
  • neurofilament protein L