Aicardi-Goutières syndrome with muscle involvement in early infancy

Neuropathol Appl Neurobiol. 2018 Dec;44(7):737-742. doi: 10.1111/nan.12454.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Autoimmune Diseases of the Nervous System / genetics
  • Autoimmune Diseases of the Nervous System / pathology*
  • Brain / pathology*
  • Exodeoxyribonucleases / genetics
  • Humans
  • Infant
  • Male
  • Muscle, Skeletal / pathology*
  • Nervous System Malformations / genetics
  • Nervous System Malformations / pathology*
  • Phosphoproteins / genetics

Substances

  • Phosphoproteins
  • Exodeoxyribonucleases
  • three prime repair exonuclease 1

Supplementary concepts

  • Aicardi-Goutieres syndrome