PITX1 and facioscapulohumeral muscular dystrophy: Other genes previously suggested to play a role in FSHD pathogenesis like PITX1[27] as well as D4Z4 proximal genes (FRG1, FRG2, ANT1, LRP2BP) were expressed at comparable levels in T2-STIR + and T2-STIR – FSHD muscles (not shown).