Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia

Mov Disord. 2020 Feb;35(2):372-373. doi: 10.1002/mds.27981. Epub 2020 Jan 10.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Child, Preschool
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Dystonic Disorders / genetics
  • Female
  • GTPase-Activating Proteins / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Mutation / genetics*

Substances

  • GTPase-Activating Proteins
  • TBC1D24 protein, human

Supplementary concepts

  • Dystonia 18