Unraveling Phenotypic Variability in Action Myoclonus with Renal Failure with SCARB2 Mutation in Siblings

Mov Disord Clin Pract. 2024 Aug;11(8):1035-1037. doi: 10.1002/mdc3.14067. Epub 2024 May 13.
No abstract available

Keywords: SCARB2; action myoclonus; progressive myoclonic epilepsy.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Humans
  • Lysosomal Membrane Proteins* / genetics
  • Male
  • Mutation*
  • Myoclonus / genetics
  • Myoclonus / physiopathology
  • Phenotype
  • Receptors, Scavenger* / genetics
  • Renal Insufficiency* / genetics
  • Siblings*

Substances

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