Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene

Clin Neurol Neurosurg. 2013 Feb;115(2):208-9. doi: 10.1016/j.clineuro.2012.04.016. Epub 2012 May 24.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Action Potentials / physiology
  • Aged
  • Charcot-Marie-Tooth Disease / genetics*
  • Disulfides
  • Extracellular Space
  • Gait Disorders, Neurologic / etiology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation*
  • Myelin P0 Protein / chemistry
  • Myelin P0 Protein / genetics*
  • Ossification of Posterior Longitudinal Ligament / complications
  • Phenotype
  • Sensory Receptor Cells / physiology

Substances

  • Disulfides
  • MPZ protein, human
  • Myelin P0 Protein