Childhood onset myoclonus-dystonia associated with a novel KCTD17 variant in an Indian patient

Parkinsonism Relat Disord. 2023 Dec:117:105925. doi: 10.1016/j.parkreldis.2023.105925. Epub 2023 Nov 2.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing* / genetics
  • Child
  • Dystonic Disorders* / genetics
  • Humans
  • Mutation / genetics
  • Sarcoglycans / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • KCTD17 protein, human
  • Sarcoglycans

Supplementary concepts

  • Myoclonic dystonia