A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E

Neurol India. 2017 Jul-Aug;65(4):893-895. doi: 10.4103/neuroindia.NI_783_16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / pathology*
  • Child
  • DNA Mutational Analysis
  • Deafness / genetics
  • Deafness / pathology*
  • Electron Microscope Tomography
  • Female
  • Humans
  • Longitudinal Studies
  • Male
  • Mutation / genetics
  • Myelin Proteins / genetics
  • Sural Nerve / pathology*
  • Sural Nerve / ultrastructure

Substances

  • Myelin Proteins
  • PMP22 protein, human

Supplementary concepts

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e