DMD and Duchenne muscular dystrophy: It further added that a fusion transcript was detected, PFKFB3::DMD, with reads spanning exon 1 of PFKFB3 to exon 45 of DMD, providing even more conclusive evidence that the 306 kb inverted insertion of 10p15.1 is the pathogenic variant that results in Duchenne muscular dystrophy in both boys.