Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities

Neuropediatrics. 2019 Oct;50(5):336-337. doi: 10.1055/s-0039-1688767. Epub 2019 May 28.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Basal Ganglia Diseases / complications
  • Basal Ganglia Diseases / diagnosis*
  • Basal Ganglia Diseases / genetics*
  • Brain / diagnostic imaging
  • Brain / pathology
  • Child, Preschool
  • Dystonic Disorders / complications
  • Dystonic Disorders / diagnosis*
  • Dystonic Disorders / genetics*
  • Female
  • Humans
  • Mutation
  • Optic Atrophy, Autosomal Dominant / complications
  • Optic Atrophy, Autosomal Dominant / diagnosis*
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*

Substances

  • Oxidoreductases Acting on CH-CH Group Donors
  • trans-2-enoyl-CoA reductase (NADPH)