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SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

  • Robert C Bucelli
  • , Khalid Arhzaouy
  • , Alan Pestronk
  • , Sara K Pittman
  • , Luisa Rojas
  • , Carolyn M Sue
  • , Anni Evilä
  • , Peter Hackman
  • , Bjarne Udd
  • , Matthew Harms
  • , Conrad C Weihl

    Research output: Contribution to journalArticleScientificpeer-review

    86 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)665-674
    JournalNeurology
    Volume85
    Issue number8
    DOIs
    Publication statusPublished - 2015
    Publication typeA1 Journal article-refereed

    Publication forum classification

    • Publication forum level 2

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