The distal portion of the human 4q35 genomic region (4q35.2) contains a complex arrangement of repetitive sequences and several genes including facioscapulohumeral muscular dystrophy (FSHD) region genes 1 and 2 (FRG1 and FRG2) [1]. This evidence concerns the gene FRG1 and facioscapulohumeral muscular dystrophy.