As expected, PAX7 target gene repression proved a clear biomarker of FSHD status, discriminating FSHD and control muscle biopsies (multivariate regression: PAX7 score versus control/TIRM−/TIRM+ status adjusting for age and sex, P = 0.0013). This evidence concerns the gene PAX7 and facioscapulohumeral muscular dystrophy.