To identify BIN1 mutations affecting its function in skeletal muscle, we sequenced the muscle-specific exon 11 and the adjacent splice-relevant intronic regions in a cohort of 84 patients with various forms of centronuclear myopathy and without mutations in MTM1, DNM2, or in the other BIN1 exons. The gene discussed is MTM1; the disease is autosomal dominant centronuclear myopathy.