Figure 2.

Schematic representation of the DMD gene region encompassing the novel sequence variant c.9649+4A>T (indicated by the red arrow) in the splice donor site within intron 66 (upper panel; Created with BioRender.com), and bidirectional Sanger sequencing analysis from maternal DNA showing the presence of both variant and wild-type alleles (lower panel). Sense and antisense DMD sequences are shown by indicating the orientation of the DNA strands in the panels, as well as a range of 4-8 base pairs are underlined in both directions at the exon-intron junction in order to highlight this boundary. WT, wild-type sequence.