Figure 3.

Proportions of phenotypes and frame types in deletion (del.) mutations. The analysis was performed using a total of 3712 patients having deletions arising within the region of exons 2–78 to which the definition of frameshift: out-of- or in-frame is applied. Patients without diagnosis with DMD or BMD were excluded from the analysis. (A) “Frame type-based” phenotype ratios indicating that 22% of patients having in-frame deletions are associated with DMD. (B) “Phenotype-based” frame type ratios that define the reading frame rule [19,20].