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. 2020 Sep 20;7(10):2041–2046. doi: 10.1002/acn3.51201

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© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Graphic representation of the aberrant splicing of DMD caused by the complex structural variant. The complex structural variant, 982,323bp inversion flanked by 3,719bp deletion‐insertion, caused the skipping of exons 8–51 from the mature mRNA. The aberrant transcript was predicted to create a frameshift and premature termination codon, which was consistent with the absent expression of dystrophin observed on immunostaining. (A) reference genome; (B) patient genome (NC_000023.10); (C) dystrophin pre‐mRNA; (D) dystrophin mRNA (NM_004006.2). (E) and (I) hematoxylin and eosin staining (×20); (F) and (J) immunohistochemical staining for dystrophin‐N (×20); (G) and (K) dystrophin‐C (×20); (H) and (L) dystrophin‐R (×20). (E)–(H), a healthy control; (I)–(L), the patient. L1, LINE‐1.