The finding that human cases of contraction-independent FSHD, with such a characteristic and restricted set of clinical symptoms, segregate with the deletion of a putative regulatory genomic element in the FAT1 locus instead of the traditional D4Z4 contraction, strongly supports the idea that altered FAT1 regulation plays a key role in the pathology. The gene discussed is FAT1; the disease is facioscapulohumeral muscular dystrophy.