A relatively common hypomorphic variant in WARS2 causes monogenic disease

Research output: Contribution to journalDebate/Note/Editorial

Original languageEnglish
Pages (from-to)129-131
Number of pages3
JournalParkinsonism and Related Disorders
Volume94
DOIs
Publication statusPublished - 2022 Jan

Subject classification (UKÄ)

  • Neurology

Free keywords

  • Common variants
  • Dystonia
  • Early-onset Parkinson disease
  • Hypomorphic variants
  • Mendelian disease
  • Mitochondrial disease
  • Myoclonus
  • Rare variants
  • WARS2 c.833T>G
  • WARS2 c.938A>T
  • WARS2 p.(Lys313Met)
  • WARS2 p.(Val278Gly)

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