Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement

Clin Genet. 2019 Dec;96(6):590-591. doi: 10.1111/cge.13634. Epub 2019 Aug 30.
No abstract available

Publication types

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

MeSH terms

  • Base Sequence
  • Central Nervous System / diagnostic imaging
  • Central Nervous System / metabolism*
  • Central Nervous System / pathology*
  • Child
  • Child, Preschool
  • Dystroglycans / metabolism*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mannosyltransferases / genetics*
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • White Matter / abnormalities

Substances

  • Membrane Proteins
  • Dystroglycans
  • Mannosyltransferases
  • DPM3 protein, human