A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification

Brain. 2019 Feb 1;142(2):e4. doi: 10.1093/brain/awy343.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles*
  • Brain Diseases / diagnostic imaging
  • Brain Diseases / genetics*
  • Calcinosis / diagnostic imaging
  • Calcinosis / genetics*
  • Glycoside Hydrolases / genetics*
  • Humans
  • Male
  • Pedigree
  • Point Mutation / genetics*

Substances

  • Glycoside Hydrolases
  • MYORG protein, human