[A rare early-onset dystonia (DYT16) in a Portuguese girl]

Rev Neurol. 2018 Jun 16;66(12):434.
[Article in Spanish]

Abstract

Distonia temprana poco frecuente (DYT16) en una niña portuguesa.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Age of Onset
  • Brazil / ethnology
  • Child
  • Consanguinity
  • Disease Progression
  • Dystonic Disorders / genetics*
  • Exons / genetics
  • Female
  • Homozygote
  • Humans
  • Mutation, Missense*
  • Point Mutation*
  • Portugal
  • RNA-Binding Proteins / genetics*

Substances

  • PRKRA protein, human
  • RNA-Binding Proteins

Supplementary concepts

  • Dystonia 16