Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A

Muscle Nerve. 2018 May;57(5):E126-E128. doi: 10.1002/mus.26047. Epub 2018 Jan 26.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology*
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Longitudinal Studies
  • Male
  • Mitochondrial Proteins / genetics*
  • Muscle Strength / genetics
  • Mutation / genetics*
  • Young Adult

Substances

  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2A