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Sci.","The Journal of Veterinary Medical Science"],"published-print":{"date-parts":[[2022]]},"DOI":"10.1292\/jvms.21-0504","type":"journal-article","created":{"date-parts":[[2022,2,7]],"date-time":"2022-02-07T22:08:34Z","timestamp":1644271714000},"page":"502-506","source":"Crossref","is-referenced-by-count":1,"title":["Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base          pair insertion in exon 45 of the &lt;i&gt;Duchenne muscular dystrophy&lt;\/i&gt;          gene"],"prefix":"10.1292","volume":"84","author":[{"given":"Kosei","family":"SAKAI","sequence":"first","affiliation":[{"name":"Veterinary Medical Center, Graduate School of Life and              Environmental Sciences, Osaka Prefecture University, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoki","family":"MOTEGI","sequence":"additional","affiliation":[{"name":"Department of Veterinary Clinical Pathobiology,              Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo,              Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James Ken","family":"CHAMBERS","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathology, Graduate School of              Agricultural and Life Sciences, The University of Tokyo, Tokyo,            Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuyuki","family":"UCHIDA","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathology, Graduate School of              Agricultural and Life Sciences, The University of Tokyo, Tokyo,            Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetaka","family":"NISHIDA","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Surgery, Graduate School of              Life and Environmental Sciences, Osaka Prefecture University, Osaka,              Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunsuke","family":"SHIMAMURA","sequence":"additional","affiliation":[{"name":"Veterinary Medical Center, Graduate School of Life and              Environmental Sciences, Osaka Prefecture University, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"TANI","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Internal Medicine, Graduate              School of Life and Environmental Sciences, Osaka Prefecture University, Osaka,              Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terumasa","family":"SHIMADA","sequence":"additional","affiliation":[{"name":"Veterinary Medical Center, Graduate School of Life and              Environmental Sciences, Osaka Prefecture University, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaru","family":"FURUYA","sequence":"additional","affiliation":[{"name":"Laboratory of Veterinary Internal Medicine, Graduate              School of Life and Environmental Sciences, Osaka Prefecture University, Osaka,              Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"122","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Alman, B.                A., Raza,                S. N. and                Biggar, W.              D.          2004. Steroid treatment and the development of scoliosis in            males with duchenne muscular dystrophy. <i>J. Bone Joint              Surg. Am.<\/i>          86: 519\u2013524.","DOI":"10.2106\/00004623-200403000-00009"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Baltzer, W.                I., Calise,                D. V.,                Levine, J.              M., Shelton,                G. D.,                Edwards, J.              F. and Steiner,                J. M.          2007. Dystrophin-deficient muscular dystrophy in a            Weimaraner. <i>J. Am. Anim. Hosp. Assoc.<\/i>          43: 227\u2013232.","DOI":"10.5326\/0430227"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Baroncelli, A.                B., Abellonio,                F., Pagano,                T. B.,                Esposito,              I., Peirone,                B.,                Papparella,              S. and                Paciello,              O.          2014. Muscular dystrophy in a dog resembling human becker            muscular dystrophy. <i>J. Comp. Pathol.<\/i>          150: 429\u2013433.","DOI":"10.1016\/j.jcpa.2013.12.006"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Barth\u00e9l\u00e9my,                I.,              Calmels, N.,                Weiss, R.              B., Tiret,                L., Vulin,                A., Wein,                N.,              Peccate, C.,                Drougard,              C., Beroud,                C.,                Deburgrave,              N., Thibaud,                J. L.,                Escriou,            C., Punz\u00f3n,                I., Garcia,                L., Kaplan,                J. C.,                Flanigan, K.              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Jenkins, C.                A. and Forman,                O. P.          2015. Identification of a novel frameshift mutation in the DMD            gene as the cause of muscular dystrophy in a Norfolk terrier dog.              <i>Canine Genet. Epidemiol.<\/i>          2: 7.","DOI":"10.1186\/s40575-015-0019-4"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Kurosaki,                T., Popp,                M. W. and                Maquat, L.              E.          2019. Quality and quantity control of gene expression by            nonsense-mediated mRNA decay. <i>Nat. Rev. Mol. Cell              Biol.<\/i>          20: 406\u2013420.","DOI":"10.1038\/s41580-019-0126-2"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Mickelson, J.                R., Minor,                K. M., Guo,                L. T.,                Friedenberg, S.              G., Cullen,                J. N.,                Ciavarella,              A., Hambrook,                L. E.,                Brenner, K.              M., Helmond,                S. E.,                Marks, S.              L. and Shelton,                G. D.          2021. Sarcoglycan A mutation in miniature dachshund dogs            causes limb-girdle muscular dystrophy 2D. <i>Skelet.              Muscle<\/i>          11: 2.","DOI":"10.1186\/s13395-020-00257-y"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Nghiem, P.                P., Bello,                L.,                Balog-Alvarez,              C., L\u00f3pez,                S. M.,                Bettis, A.,                Barnett,            H., Hernandez,                B.,                Schatzberg, S.              J., Piercy,                R. J. and                Kornegay, J.              N.          2017. Whole genome sequencing reveals a 7 base-pair deletion            in DMD exon 42 in a dog with muscular dystrophy. <i>Mamm.              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Venugopal,                V. and                Pavlakis,              S.          2020. Duchenne Muscular Dystrophy. StatPearls Publishing, Treasure          Island."},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Walmsley, G.                L., Arechavala-Gomeza,                V.,                Fernandez-Fuente,              M., Burke,                M. M.,                Nagel, N.,                Holder, A.,                Stanley,            R., Chandler,                K., Marks,                S. L.,                Muntoni,            F., Shelton,                G. D. and                Piercy, R.              J.          2010. A duchenne muscular dystrophy gene hot spot mutation in            dystrophin-deficient cavalier king charles spaniels is amenable to exon 51            skipping. <i>PLoS One<\/i>          5: e8647.","DOI":"10.1371\/journal.pone.0008647"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Yilmaz,              O.,              Karaduman, A.            and Topalo\u011flu,              H.          2004. Prednisolone therapy in Duchenne muscular dystrophy            prolongs ambulation and prevents scoliosis. <i>Eur. J.              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