Ontology highlight
ABSTRACT:
SUBMITTER: Wang LH
PROVIDER: S-EPMC6337697 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Wang Leo H LH Friedman Seth D SD Shaw Dennis D Snider Lauren L Wong Chao-Jen CJ Budech Chris B CB Poliachik Sandra L SL Gove Nancy E NE Lewis Leann M LM Campbell Amy E AE Lemmers Richard J F L RJFL Maarel Silvère M SM Tapscott Stephen J SJ Tawil Rabi N RN
Human molecular genetics 20190201 3
Facioscapulohumeral muscular dystrophy (FSHD) is a common, dominantly inherited disease caused by the epigenetic de-repression of the DUX4 gene, a transcription factor normally repressed in skeletal muscle. As targeted therapies are now possible in FSHD, a better understanding of the relationship between DUX4 activity, muscle pathology and muscle magnetic resonance imaging (MRI) changes is crucial both to understand disease mechanisms and for the design of future clinical trials. Here, we perfor ...[more]