DUX4-fl was detected in five of the ten FSHD samples, based on primers amplifying DUX4-fl and primers amplifying the 3-prime region of DUX4-fl (DUX4-fl3′) that is contained in DUX4-fl but not in DUX4-s (see Figure 1B). The gene discussed is DUX4; the disease is Facioscapulohumeral dystrophy.