Reporting a new mutation at the SLC20A2 gene in familial idiopathic basal ganglia calcification

Eur J Neurol. 2013 Mar;20(3):e43-e44. doi: 10.1111/ene.12044.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged, 80 and over
  • Basal Ganglia Diseases / genetics*
  • Basal Ganglia Diseases / physiopathology
  • Brazil
  • Calcinosis / genetics*
  • Calcinosis / physiopathology
  • Female
  • Humans
  • Male
  • Mutation
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / physiopathology
  • Pedigree
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics*

Substances

  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III

Supplementary concepts

  • Fahr's disease