DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
Fig 4
Distribution of point mutations distribution along the dystrophin domains.
Mutations in DMD in red, in IMD in green, and in BMD in blue. Mutations detected in female isolated carriers in black. CH1-2: calponin homology domains binding actine ABD1; H1–H4: hinge regions; R1-24: spectrin-like repeats; WW: domain containing two tryptophans; EF-1-2: putative calcium binding sites; ZZ: zinc-finger domain.