The identification of FSHD individuals with proximally extended deletions, in which not only a large part of the D4Z4 repeat array, but also proximal sequences (including FRG2) were deleted, again suggests that a cis-acting effect on FRG2 is not necessary for FSHD pathology[57,58]. The gene discussed is FRG2; the disease is facioscapulohumeral muscular dystrophy.