A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain

Clin Genet. 2019 Mar;95(3):433-435. doi: 10.1111/cge.13467. Epub 2018 Nov 20.
No abstract available

Publication types

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

MeSH terms

  • Brain Diseases / diagnosis*
  • Brain Diseases / genetics*
  • Calcinosis / diagnosis*
  • Calcinosis / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Glycoside Hydrolases / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Mutation*
  • Neuralgia / diagnosis*
  • Neuralgia / genetics*

Substances

  • Glycoside Hydrolases
  • MYORG protein, human