Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing.

•sixty-three percent of patients harbor del. or dup. mutation•de novo mutation frequency of 39.5%•deletion rich region from exon 45 to 52•MLPA combines with Sanger sequence to detect subtle mutations•a significant correlation between severity and frame shift mutation