Skip to main content
Fig. 5 | BMC Medical Genetics

Fig. 5

From: Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report

Fig. 5

Overview of the functional domains in the Dystrophin protein and the mutation hotspots. a In normal condition, the full-length protein product is encoded by 79 exons and consists of four domains: N-terminal domain (ABD, green), internal rod-shaped domain (S, orange), cysteine-rich domain (CR, pink) and Zinc Finger-rich carboxyl-terminal domain (ZF, red). b The dystrophin deletion hotspot regions, in which the N terminal ABD and 45–55 exons in the central rod-like domain are gray. c SNV hotspot mutation regions are highlighted in red circle. d The mutants discovered in our study are also highlighted

Back to article page