Summary of DMD point mutations, clinical phenotype and muscle dystrophin immunostaining in 105 dystrophinopathy patients.

Asterisks indicate novel mutations not previously reported in the LOVD (www.dmd.nl). Protein domains: ABD, actin-binding domain; CH1-2, calponin homology; R1-24, spectrin-like repeats; H1-4, hinge regions; CRD, cysteine-rich domain; WW, domain with a signature of two tryptophan that binds to proline-rich proteins; EF-1/2, EF-hand domains found in calcium-binding proteins; ZZ, zinc-finger domain; CTD, c-terminal domain; SBS α1-syntrophin-binding site.