A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar;15(1-2):138-40. doi: 10.3109/21678421.2013.865751. Epub 2014 Feb 7.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Atrophy / etiology
  • Cerebellum / pathology
  • Chorea / complications
  • Chorea / genetics*
  • DNA Helicases
  • DNA Mutational Analysis
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Motor Neuron Disease / complications
  • Motor Neuron Disease / genetics*
  • Multifunctional Enzymes
  • Mutation / genetics*
  • RNA Helicases / genetics*
  • Spinal Cord / pathology

Substances

  • Multifunctional Enzymes
  • SETX protein, human
  • DNA Helicases
  • RNA Helicases