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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

  • Mirjam Larsen*
  • , Simone Rost
  • , Nady El Hajj
  • , Andreas Ferbert
  • , Marcus Deschauer
  • , Maggie C. Walter
  • , Benedikt Schoser
  • , Pawel Tacik
  • , Wolfram Kress
  • , Clemens R. Müller
    • *Corresponding author for this work
  • University of Würzburg
  • Klinikum Kassel GmbH
  • Martin Luther University Halle-Wittenberg
  • Ludwig Maximilian University of Munich
  • Hannover Medical School

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology