Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2

Neurology. 2006 Dec 12;67(11):2083-4. doi: 10.1212/01.wnl.0000247661.19601.28.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Apraxias / complications
  • Apraxias / enzymology
  • Apraxias / genetics*
  • Ataxia / complications
  • Ataxia / enzymology
  • Ataxia / genetics*
  • DNA Helicases / genetics*
  • Female
  • Humans
  • Male
  • Multifunctional Enzymes
  • Mutation, Missense*
  • Oculomotor Nerve Diseases / complications
  • Oculomotor Nerve Diseases / enzymology
  • Oculomotor Nerve Diseases / genetics*
  • Pedigree
  • Protein Structure, Tertiary / genetics
  • RNA Helicases / genetics*

Substances

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