Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation

Neurology. 2010 Jun 8;74(23):1919-21. doi: 10.1212/WNL.0b013e3181e240f9.
No abstract available

Publication types

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

MeSH terms

  • Brain Diseases / complications
  • Brain Diseases / genetics*
  • Charcot-Marie-Tooth Disease / complications
  • Charcot-Marie-Tooth Disease / genetics*
  • Family Health
  • Female
  • GTP Phosphohydrolases
  • Humans
  • Introns / genetics
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Mutation / genetics*
  • RNA Splicing / genetics*

Substances

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