Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2

Muscle Nerve. 2014 Jan;49(1):145-6. doi: 10.1002/mus.23985.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • GTP Phosphohydrolases / analysis
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Mitochondrial Proteins / analysis
  • Mitochondrial Proteins / genetics*
  • Molecular Sequence Data
  • Mutation, Missense / genetics*
  • Pedigree

Substances

  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human