A new NBIA patient from Turkey with homozygous C19ORF12 mutation

Acta Neurol Belg. 2019 Dec;119(4):623-625. doi: 10.1007/s13760-018-1026-5. Epub 2018 Oct 8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Homozygote
  • Humans
  • Iron Metabolism Disorders / genetics*
  • Mitochondrial Proteins / genetics*
  • Mutation
  • Neuroaxonal Dystrophies / genetics*
  • Turkey

Substances

  • C19orf12 protein, human
  • Mitochondrial Proteins

Supplementary concepts

  • Neurodegeneration with brain iron accumulation (NBIA)