Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant

Rev Neurol (Paris). 2017 Dec;173(10):671-673. doi: 10.1016/j.neurol.2017.05.008. Epub 2017 Jun 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Charcot-Marie-Tooth Disease / diagnosis*
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / pathology
  • Diagnosis, Differential
  • Genotype
  • Humans
  • Male
  • Motor Neuron Disease / diagnosis*
  • Motor Neuron Disease / genetics*
  • Motor Neuron Disease / pathology
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Superoxide Dismutase-1 / genetics*
  • Time Factors

Substances

  • SOD1 protein, human
  • Superoxide Dismutase-1