A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs

Neurogenetics. 2009 Oct;10(4):359-61. doi: 10.1007/s10048-009-0188-y. Epub 2009 Apr 7.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution*
  • Animals
  • Charcot-Marie-Tooth Disease* / genetics
  • Charcot-Marie-Tooth Disease* / physiopathology
  • GTP Phosphohydrolases
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mitochondrial Proteins / genetics*
  • Molecular Sequence Data
  • Motor Neuron Disease / genetics*
  • Motor Neuron Disease / physiopathology
  • Mutation*
  • Sequence Alignment

Substances

  • Membrane Proteins
  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human