Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
René G FeichtingerBettina E MuchaHolger HengelZakaria OrfiChristine MakowskiJunio DortGuy D'AnjouThi Tuyet Mai NguyenRebecca BuchertHendrik JuengerPeter FreisingerSarah BaumeisterBenedikt SchoserUwe AhtingReinhard KeimerCam-Tu Emilie NguyenPaul FabreJulie GauthierMarguerite MiguetFátima LopesAfnan AlHakeemAmal M AlhashemBrahim TabarkiKrishna Kumar KandaswamyPeter BauerPeter SteinbacherHolger ProkischMarc SturmTim M StromBenjamin EllezamJohannes Adalbert MayrLudger SchölsJacques L MichaudPhilippe M CampeauTobias B HaackNicolas A DumontPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
These findings show that biallelic variants in the master transcription factor PAX7 cause a new type of myopathy that specifically affects satellite cell survival.