In our CGH survey of 29 FSHD cases, including 10 FSHD1 cases and 19 contraction-independent cases (5 of which at least not showing D4Z4 hypomethylation, see Table S1 for clinical and genetic characterization of patients), we detected 5 cases exhibiting loss of portions of the intron 17 (between exons 17 and 18), or intron 16 of the FAT1 gene (Figure 10A,B, Figure S16). Here, FAT1 is linked to facioscapulohumeral muscular dystrophy.