Nerve ultrasound in CMT2E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology

Clin Neurophysiol. 2016 Sep;127(9):2990-2991. doi: 10.1016/j.clinph.2016.06.024. Epub 2016 Jun 30.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Charcot-Marie-Tooth Disease / diagnostic imaging*
  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • Disease Progression
  • Humans
  • Male
  • Median Nerve / diagnostic imaging
  • Mutation, Missense*
  • Neurofilament Proteins / genetics*
  • Peroneal Nerve / diagnostic imaging
  • Ulnar Nerve / diagnostic imaging
  • Ultrasonography

Substances

  • Neurofilament Proteins
  • neurofilament protein L

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 1F
  • Charcot-Marie-Tooth disease, Type 2E