Aberrations in Zscan4, which are implicated in facioscapulohumeral muscular dystrophy (FSHD) 1 and 2 - a disease characterized by progressive muscle weakness and atrophy (68) - arise in part from dysfunctions at the neuromuscular junction (NMJ) (69). The gene discussed is ZSCAN4; the disease is facioscapulohumeral muscular dystrophy.