De novo partial duplication of 17p associated with Charcot-Marie-Tooth disease type 1A

J Neurol Neurosurg Psychiatry. 2001 May;70(5):703-4. doi: 10.1136/jnnp.70.5.703.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Child
  • Chromosomes, Human, Pair 17 / genetics*
  • Gene Duplication
  • Humans
  • Male
  • Neural Conduction / physiology