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 Ellezam Johannes Adalbert MayrLudger SchölsJacques L MichaudPhilippe M CampeauTobias B HaackNicolas A Dumont

Published 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.

Keyphrases

transcription factor
copy number
intellectual disability
late onset
dna binding
genome wide
muscular dystrophy
genome wide identification
autism spectrum disorder
dna methylation
early onset
gene expression