CV and ΔCV in relation to MD patient phenotypes.

Using HSF, each mutation is analysed for the effect on the given splice site based on the two parameters CV and ΔCV. Mutated splice sites with CVs above 70 are likely to retain some activity. Conversely, splice sites with CVs below 70 are considered inactive. ΔCV-reductions of less than 10% (or * less than 7% at position +4) are likely to retain some wild-type splice site activity, whereas ΔCV-reductions of more than 10% (7% at position +4) are considered broken and inactive [10]. The mutations are categorized based on the CV- and ΔCV-values obtained in Table 1 “Mild MD” covers atypical MD and OHS phenotypes. Patients with unknown clinical phenotype are not included.