Starting from tissue-cultured human primary myocytes from four FSHD patients (two FSHD1 and two FSHD2) and two healthy controls, van den Heuvel et al. (2019) reported differences among the FSHD and control tissues and profiled transcriptome signatures in the DUX4 expressing and non-expressing FSHD cells, revealing more than 1300 DEGs [79]. This evidence concerns the gene SMCHD1 and facioscapulohumeral muscular dystrophy.