GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Arginine / genetics
  • Charcot-Marie-Tooth Disease* / genetics
  • Charcot-Marie-Tooth Disease* / pathology
  • Charcot-Marie-Tooth Disease* / physiopathology
  • Child
  • DNA Mutational Analysis / methods
  • Evoked Potentials, Motor / physiology
  • Female
  • Humans
  • Male
  • Methionine / genetics
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Neural Conduction / genetics
  • Neural Conduction / physiology
  • Pyramidal Tracts / physiopathology*

Substances

  • GDAP protein
  • Nerve Tissue Proteins
  • Arginine
  • Methionine