Mutations in the Mitochondrial GTPase Mitofusin 2 Cause Charcot-Marie-Tooth Neuropathy Type 2A

Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 1 / genetics
  • Exons
  • Female
  • GTP Phosphohydrolases
  • Humans
  • Introns
  • Kinesin / genetics*
  • Lod Score
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mitochondria / enzymology*
  • Mitochondria / genetics
  • Mitochondrial Proteins / genetics*
  • Mutation, Missense / genetics*
  • Nerve Tissue Proteins / genetics*
  • Pedigree

Substances

  • KIF1B protein, human
  • Membrane Proteins
  • Mitochondrial Proteins
  • Nerve Tissue Proteins
  • GTP Phosphohydrolases
  • MFN2 protein, human
  • Kinesin