First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study

Parkinsonism Relat Disord. 2020 Oct:79:117-120. doi: 10.1016/j.parkreldis.2020.08.024. Epub 2020 Aug 20.
No abstract available

Keywords: Intellectual disability; Misdiagnosis; Myoclonus-dystonia; Pathogenic SGCE variants.

Publication types

  • Letter

MeSH terms

  • Age of Onset
  • Diagnostic Errors
  • Dystonic Disorders / epidemiology*
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / physiopathology*
  • Follow-Up Studies
  • Humans
  • Indians, North American / ethnology
  • Indians, North American / genetics
  • Mexico / epidemiology
  • Pedigree
  • Sarcoglycans / genetics*

Substances

  • SGCE protein, human
  • Sarcoglycans

Supplementary concepts

  • Myoclonic dystonia