Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease

Neurology. 2014 Nov 4;83(19):1769-70. doi: 10.1212/WNL.0000000000000953. Epub 2014 Oct 1.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cathepsin F / genetics*
  • Family Health
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Neuronal Ceroid-Lipofuscinoses / genetics*
  • Neuronal Ceroid-Lipofuscinoses / pathology
  • Presenilin-1 / genetics
  • Skin / pathology
  • Skin / ultrastructure
  • Ubiquitin C / metabolism

Substances

  • PSEN1 protein, human
  • Presenilin-1
  • Ubiquitin C
  • CTSF protein, human
  • Cathepsin F