MATR3 haploinsufficiency and early-onset neurodegeneration

Brain. 2021 Oct 22;144(9):e72. doi: 10.1093/brain/awab240.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Haploinsufficiency / genetics*
  • Humans
  • Male
  • Neurodegenerative Diseases / diagnostic imaging*
  • Neurodegenerative Diseases / genetics*
  • Nuclear Matrix-Associated Proteins / genetics*
  • RNA-Binding Proteins / genetics*

Substances

  • MATR3 protein, human
  • Nuclear Matrix-Associated Proteins
  • RNA-Binding Proteins