A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy

J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1286-7. doi: 10.1136/jnnp.2007.115774.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution / genetics
  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • Chromosome Aberrations
  • DNA Mutational Analysis*
  • Female
  • Founder Effect*
  • GTP Phosphohydrolases
  • Genes, Dominant
  • Genetic Carrier Screening
  • Haplotypes
  • Humans
  • Italy
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mitochondrial Proteins / genetics*
  • Phenotype*

Substances

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