Our lymphoblastoid-specific FSHD score was also enriched for genes up-regulated in stem cells and involved in EZH2 misregulation (Supplementary Material, Table S2), in line with our previous investigations into DUX4 function (26) and FSHD muscle biopsy gene expression (32). This evidence concerns the gene DUX4 and facioscapulohumeral muscular dystrophy.