A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2

Mov Disord. 2012 Aug;27(9):1200-1. doi: 10.1002/mds.25083. Epub 2012 Jul 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Audiometry, Pure-Tone
  • Auditory Pathways
  • Electroencephalography
  • Female
  • Hearing Loss / etiology*
  • Hearing Loss / genetics
  • Hearing Loss / physiopathology
  • Humans
  • Lysosomal Membrane Proteins / genetics*
  • Mutation
  • Myoclonic Epilepsies, Progressive / complications*
  • Myoclonic Epilepsies, Progressive / genetics
  • Myoclonic Epilepsies, Progressive / physiopathology
  • Polymerase Chain Reaction
  • Receptors, Scavenger / genetics*

Substances

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