Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathy

Jonathan De Winter, Johanna Palmio, Markus Schuelke, Bjarne Udd, Werner Stenzel, Jonathan Baets

Research output: Contribution to journalLetterScientific

1 Citation (Scopus)
Original languageEnglish
Pages (from-to)4907-4910
JournalJournal of Physiology
Volume603
Issue number17
Early online date22 Aug 2025
DOIs
Publication statusPublished - Sept 2025
Publication typeB1 Journal article

Keywords

  • myopathy
  • SPTAN1
  • SPTBN4

ASJC Scopus subject areas

  • Physiology

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