Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy

Ophthalmic Genet. 2020 Feb;41(1):93-95. doi: 10.1080/13816810.2020.1723119. Epub 2020 Feb 10.
No abstract available

Publication types

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

MeSH terms

  • Female
  • Heterozygote
  • Humans
  • Intranuclear Inclusion Bodies / genetics
  • Intranuclear Inclusion Bodies / pathology
  • Middle Aged
  • Neurodegenerative Diseases / complications
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / pathology*
  • Protein Domains
  • Receptors, Notch / genetics*
  • Retinal Dystrophies / complications
  • Retinal Dystrophies / genetics
  • Retinal Dystrophies / pathology*
  • Trinucleotide Repeat Expansion*

Substances

  • Receptors, Notch

Supplementary concepts

  • Neuronal intranuclear inclusion disease