A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

Brain. 2020 Jun 1;143(6):e49. doi: 10.1093/brain/awaa120.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Cerebellar Ataxia* / genetics
  • Homozygote
  • Humans
  • Mutation / genetics
  • Patients