In particular, a study performed on biopsies from 36 FSHD patients found that DUX4 signatures were significantly upregulated in muscles positive to short tau inversion recovery (STIR+, which is a marker of muscle pathology) compared to normal muscles subjected to MRI assessment (p < 0.001). The gene discussed is DUX4; the disease is facioscapulohumeral muscular dystrophy.