Myopathy can be a key phenotype of membrin (GOSR2) deficiency

Mads G. Stemmerik*, Josefine de S. Borch, Morten Dunø, Thomas Krag, John Vissing

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

3 Citations (Scopus)
Original languageEnglish
JournalHuman Mutation
Volume42
Issue number9
Pages (from-to)1101-1106
ISSN1059-7794
DOIs
Publication statusPublished - 2021

Keywords

  • dystroglycans
  • GOSR2
  • muscular diseases
  • myoclonic epilepsies
  • SNARE proteins

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