A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure

Mov Disord. 2012 Dec;27(14):1826-7. doi: 10.1002/mds.25114. Epub 2012 Dec 5.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't
  • Video-Audio Media

MeSH terms

  • Adult
  • Ataxia / genetics
  • Female
  • Humans
  • Lysosomal Membrane Proteins / genetics*
  • Mutation / genetics*
  • Myoclonic Epilepsies, Progressive / genetics*
  • Myoclonus / diagnosis
  • Myoclonus / genetics*
  • Receptors, Scavenger / genetics*
  • Renal Insufficiency / complications*
  • Renal Insufficiency / genetics
  • Sequence Analysis, DNA / methods

Substances

  • Lysosomal Membrane Proteins
  • Receptors, Scavenger
  • SCARB2 protein, human