Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Neurology. 2011 Apr 26;76(17):1524-6. doi: 10.1212/WNL.0b013e318217e77d.
No abstract available

MeSH terms

  • Aged
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics
  • DNA Mutational Analysis
  • Family Health
  • Female
  • GTP Phosphohydrolases
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mitochondrial Diseases / etiology
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Proteins / genetics*
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*

Substances

  • GDAP protein
  • Membrane Proteins
  • Mitochondrial Proteins
  • Nerve Tissue Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human