FAT1 and Facioscapulohumeral dystrophy: 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).