Four patients in the first cohort, all from the United States, were diagnosed with LGMD2I based on mutations in FKRP. Among the 24 LGMD patients in the second cohort, 3 were diagnosed with LGMD2I, 8 with Becker muscular dystrophy, 2 with LGMD2A, 5 with dysferlinopathy (3 with LGMD2B, 2 with Miyoshi myopathy), 1 with FSHD (facial sparing), and 5 are undiagnosed to date. The gene discussed is DYSF; the disease is neuromuscular disease caused by qualitative or quantitative defects of dysferlin.