DUX4-INDUCED GENE EXPRESSION IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD)

摘要

Embodiments provide methods and compositions related to determining or predicting the presence or risk of developing DUX-4-related diseases such as muscular dystrophy. In particular, methods and compositions may be provided by identifying patients with Facioscapulohumeral muscular dystrophy (FSHD). Methods and compositions are based, in part, on the discovery that expression of certain biomarkers in patients or subjects can determine the presence or risk of developing DUX-4-related diseases such as muscular dystrophy, or particularly FSHD. Further disclosed are DUX-4 biomarkers that can be used for the methods.