Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations

Neurology. 2005 Aug 9;65(3):496-7. doi: 10.1212/01.wnl.0000171345.62270.29.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acid Substitution / genetics
  • Charcot-Marie-Tooth Disease / genetics*
  • Charcot-Marie-Tooth Disease / physiopathology
  • Child
  • Chromosome Mapping
  • DNA Mutational Analysis
  • Family Health
  • Female
  • GTP Phosphohydrolases
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genetic Variation / genetics
  • Genotype
  • Humans
  • Kinesins / genetics
  • Male
  • Membrane Proteins / genetics*
  • Mitochondrial Proteins / genetics*
  • Movement Disorders / genetics
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics
  • Phenotype
  • Point Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Pyramidal Tracts / pathology
  • Pyramidal Tracts / physiopathology

Substances

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