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Fig. 3 | Human Genomics

Fig. 3

From: Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Fig. 3

A schematic overview of new complex large rearrangements in the DMD gene. a The case #DS-53 with an unusual mixed rearrangement (dup 21–23 + del 45–52) leads to an out-of-frame shift giving rise to a severe DMD phenotype. b The case #DS2 with a double duplication (dup 2–4 + dup 18–19) results in out-of-frame shifts with a DMD phenotype. c The case #DS-52 with two in-frame shift due to double duplications (dup 13 + dup 21–24) giving rise to a BMD phenotype. d The case #DS-22 showed two double duplications within the mature mRNA giving an out-frame (dup 56–58), in-frame (dup 62–64) mutations giving rise to a DMD phenotype

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