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. This evidence concerns the gene BIN1 and autosomal dominant centronuclear myopathy.