Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain"

Neurology. 2018 Jul 17;91(3):137-139. doi: 10.1212/WNL.0000000000005821. Epub 2018 Jun 15.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Brain / diagnostic imaging*
  • Carrier Proteins / genetics
  • Electroretinography / methods*
  • Eye / diagnostic imaging*
  • Female
  • Humans
  • Lafora Disease / diagnostic imaging*
  • Lafora Disease / genetics*
  • Male
  • Phenotype*
  • Ubiquitin-Protein Ligases
  • Young Adult

Substances

  • Carrier Proteins
  • NHLRC1 protein, human
  • Ubiquitin-Protein Ligases