Expanding the Phenotypic Variability of PMPCA-Related Ataxia

Mov Disord Clin Pract. 2024 Jul;11(7):894-896. doi: 10.1002/mdc3.14057. Epub 2024 May 2.
No abstract available

Keywords: ATX‐PMPCA; PMPCA; PMPCA‐related; SCAR2; ataxia.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Ataxia / genetics
  • Female
  • Humans
  • Male
  • Phenotype*