Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

René Feichtinger (First author), Bettina E Mucha, Holger Hengel, Zakaria Orfi, Christine Makowski, Junio Dort, Guy D"Anjou, Thi Tuyet Mai Nguyen, Rebecca Buchert, Hendrik Juenger, Peter Freisinger, Sarah Baumeister, Benedikt Schoser, Uwe Ahting, Reinhard Keimer, Cam-Tu Emilie Nguyen, Paul Fabre, Julie Gauthier, Marguerite Miguet, Fátima LopesAfnan AlHakeem, Amal AlHashem, Brahim Tabarki, Krishna Kumar Kandaswamy, Peter Bauer, Peter Steinbacher, Holger Prokisch, Marc Sturm, Tim M Strom, Benjamin Ellezam, Johannes A. Mayr (Co-author), Ludger Schöls, Jacques L Michaud, Philippe M Campeau, Tobias B Haack, Nicolas A Dumont

Research output: Contribution to journalOriginal Articlepeer-review

26 Citations (Web of Science)
Original languageEnglish
Pages (from-to)2521-2531
JournalGENETICS IN MEDICINE
Volume21
Issue number11
DOIs
Publication statusPublished - 2019

Keywords

  • SATELLITE CELLS
  • PAIRED DOMAIN
  • MUTATIONS
  • ADULT
  • DISTINCT
  • MYOD
  • SPECIFICATION
  • KIF21A
  • FAMILY
  • ROLES

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