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

Mov Disord. 2014 Jan;29(1):158-9. doi: 10.1002/mds.25738. Epub 2013 Dec 11.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Female
  • Humans
  • Lysosomal Membrane Proteins / genetics*
  • Mutation / genetics*
  • Myoclonic Epilepsies, Progressive / genetics*
  • Myoclonus / genetics*
  • Receptors, Scavenger / genetics*
  • Renal Insufficiency / complications*

Substances

  • Lysosomal Membrane Proteins
  • Receptors, Scavenger