CNTNAP1 mutations in an adult with Charcot Marie Tooth disease

Muscle Nerve. 2019 Nov;60(5):E28-E30. doi: 10.1002/mus.26658. Epub 2019 Aug 27.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cell Adhesion Molecules, Neuronal / genetics*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Codon, Nonsense
  • Humans
  • Male
  • Mutation
  • Mutation, Missense
  • Neural Conduction
  • Young Adult

Substances

  • CNTNAP1 protein, human
  • Cell Adhesion Molecules, Neuronal
  • Codon, Nonsense