Figure legends
Figure 1. Pedigree showing the maternal segregation of a
1.18Mbp duplication at Xp21.1 overlapping DMD. Proband is indicated with
a black arrow (IV-2). There is no reported history of cardiomyopathy or
dystrophinopathy in maternal and paternal families.
Figure 2. Schematic representation of DMD and the
duplicated segment encompassing exons 1-7, 5’UTR, Dp427m, and Dp427c
promoters. Notice the large intervening sequence separating the isoform
promoters from the exon 7 in the duplication (dotted rectangle).