Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

Mol Genet Genomic Med. 2022 Feb;10(2):e1857. doi: 10.1002/mgg3.1857. Epub 2022 Jan 7.
No abstract available

Publication types

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

MeSH terms

  • Atrophy / genetics
  • Carrier Proteins* / genetics
  • Heterozygote
  • Humans
  • Mutation
  • Nerve Tissue Proteins* / genetics

Substances

  • Carrier Proteins
  • Nerve Tissue Proteins
  • TECPR2 protein, human