MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1263-1265. doi: 10.1136/jnnp-2015-312646. Epub 2016 May 6.
No abstract available

Keywords: NEUROGENETICS.

Publication types

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

MeSH terms

  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Japan
  • Male
  • Mitochondrial Proteins / genetics*
  • Mutation / genetics
  • Nonsense Mediated mRNA Decay / genetics*

Substances

  • Mitochondrial Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human