Immunohistochemical staining of muscle sections from carriers 1 and 2. A) Immunolabeling in symptomatic carrier 1 with NCL-DYS3 antibody (NH2-terminal) shows absence of staining in the majority of muscle fibers (approximately 80% in the whole section). B) Immunolabeling in symptomatic carrier 2 with DYS2 antibody (COOH-terminal) shows a mosaic pattern of dystrophin expression with coexistence of positive fibers, fibers with reduced or discontinuous staining and fibers with absence of labeling.
Brioschi et al. BMC Medical Genetics 2012 13:73 doi:10.1186/1471-2350-13-73