Other proteins found modulated in STIR+ muscles, such as Carbonic anhydrase 1 and 2, Neutrophil Defensin 1 and 3, and proteins involved in complement system/innate immune response activation (Table 2), have been already described as dysregulated and possibly linked with FSHD pathophysiology [6,11]. The gene discussed is CA1; the disease is facioscapulohumeral muscular dystrophy.