Moreover, the analysis of the SMCHD1 sequence pointed out the attention on seven pathogenic and likely pathogenic variants in seven FSHD patients carrying a borderline or normal sized D4Z4 fragment, which are c.182_183dupGT (p.Q62Vfs*48), c.2129dupC (p.A711Cfs*11), c.3469G>T (p.G1157*), c.5150_5151delAA (p.K1717Rfs*16) and c.1131+2_1131+5delTAAG, c.3010A>T (p.K1004*), c.853G>C (p.G285R) (Table 1). This evidence concerns the gene SMCHD1 and facioscapulohumeral muscular dystrophy.