{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T19:55:51Z","timestamp":1785009351138,"version":"3.55.0"},"reference-count":55,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2018,2,23]],"date-time":"2018-02-23T00:00:00Z","timestamp":1519344000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0193372","type":"journal-article","created":{"date-parts":[[2018,2,23]],"date-time":"2018-02-23T19:17:38Z","timestamp":1519413458000},"page":"e0193372","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":16,"title":["Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs"],"prefix":"10.1371","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9168-3315","authenticated-orcid":true,"given":"Llu\u00eds","family":"S\u00e1nchez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Beltr\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberta","family":"de Stefani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling T.","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Shea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Diane","family":"Shelton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"De Risio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise M.","family":"Burmeister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2018,2,23]]},"reference":[{"issue":"2","key":"ref1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/0092-8674(88)90383-2","article-title":"The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein","volume":"53","author":"M Koenig","year":"1988","journal-title":"Cell"},{"issue":"3","key":"ref2","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/ana.23528","article-title":"Evidence-based path to newborn screening for Duchenne muscular dystrophy","volume":"71","author":"JR Mendell","year":"2012","journal-title":"Annals of neurology"},{"issue":"5","key":"ref3","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1111\/j.1399-0004.1980.tb02293.x","article-title":"Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation","volume":"18","author":"CT Caskey","year":"1980","journal-title":"Clin Genet"},{"issue":"9","key":"ref4","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1038\/sj.embor.7400221","article-title":"Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment","volume":"5","author":"KJ Nowak","year":"2004","journal-title":"EMBO Rep"},{"issue":"6","key":"ref5","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/0092-8674(87)90579-4","article-title":"Dystrophin: the protein product of the Duchenne muscular dystrophy locus","volume":"51","author":"EP Hoffman","year":"1987","journal-title":"Cell"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule","volume":"34","author":"A Aartsma-Rus","year":"2006","journal-title":"Muscle Nerve"},{"issue":"1","key":"ref7","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/0888-7543(88)90113-9","article-title":"An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus","volume":"2","author":"AP Monaco","year":"1988","journal-title":"Genomics"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1046\/j.1365-2613.2003.00354.x","article-title":"Duchenne\u2019s muscular dystrophy: animal models used to investigate pathogenesis and develop therapeutic strategies","volume":"84","author":"CA Collins","year":"2003","journal-title":"Int J Exp Pathol"},{"issue":"3","key":"ref9","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/j.1939-1676.2001.tb02317.x","article-title":"Muscular dystrophy in female dogs","volume":"15","author":"GD Shelton","year":"2001","journal-title":"J Vet Intern Med"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1085\/jgp.201010436","article-title":"Perspectives on: SGP Symposium on Muscle in Health and Disease: mechanisms of muscle weakness in muscular dystrophy","volume":"136","author":"JA Goldstein","year":"2010","journal-title":"The Journal of General Physiology"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.cupe.2005.04.001","article-title":"The multidisciplinary management of Duchenne muscular dystrophy","volume":"15","author":"K Bushby","year":"2005","journal-title":"Current Paediatrics"},{"issue":"5","key":"ref12","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1038\/mt.2011.59","article-title":"Current status of pharmaceutical and genetic therapeutic approaches to treat DMD","volume":"19","author":"C Pichavant","year":"2011","journal-title":"Mol Ther"},{"issue":"8","key":"ref13","article-title":"Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy","volume":"25","author":"C Le Guiner","year":"2017","journal-title":"Nat Commun"},{"issue":"2","key":"ref14","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.nmd.2004.10.019","article-title":"Canine and feline models of human inherited muscle diseases","volume":"15","author":"GD Shelton","year":"2005","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"ref15","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/0888-7543(92)90210-J","article-title":"An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy","volume":"13","author":"NJ Sharp","year":"1992","journal-title":"Genomics"},{"key":"ref16","article-title":"Molecular Mechanisms of Neuromuscular Disease","author":"N Winand","year":"1994"},{"issue":"5","key":"ref17","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0960-8966(99)00011-5","article-title":"Molecular analysis of a spontaneous dystrophin &apos;knockout&apos; dog","volume":"9","author":"SJ Schatzberg","year":"1999","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"ref18","doi-asserted-by":"crossref","first-page":"e8647","DOI":"10.1371\/journal.pone.0008647","article-title":"A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping","volume":"5","author":"GL Walmsley","year":"2010","journal-title":"PLoS One"},{"issue":"3\u20134","key":"ref19","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1007\/s00335-016-9675-2","article-title":"Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy","volume":"28","author":"PP Nghiem","year":"2017","journal-title":"Mamm Genome"},{"issue":"2","key":"ref20","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/labinvest.2010.146","article-title":"An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed","volume":"91","author":"BF Smith","year":"2011","journal-title":"Lab Invest"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s40575-015-0019-4","article-title":"Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog","volume":"2","author":"CA Jenkins","year":"2015","journal-title":"Canine Genet Epidemiol"},{"issue":"2","key":"ref22","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/age.12266","article-title":"Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes","volume":"46","author":"S Atencia-Fernandez","year":"2015","journal-title":"Anim Genet"},{"issue":"4","key":"ref23","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1073\/pnas.81.4.1189","article-title":"X chromosome-linked muscular dystrophy (mdx) in the mouse","volume":"81","author":"G Bulfield","year":"1984","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"ref24","first-page":"909","article-title":"Feline muscular dystrophy with dystrophin deficiency","volume":"135","author":"JL Carpenter","year":"1989","journal-title":"Am J Pathol"},{"issue":"21","key":"ref25","doi-asserted-by":"crossref","first-page":"4368","DOI":"10.1093\/hmg\/ddt287","article-title":"Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle","volume":"22","author":"N Klymiuk","year":"2013","journal-title":"Human molecular genetics"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"5635","DOI":"10.1038\/srep05635","article-title":"Generation of muscular dystrophy model rats with a CRISPR\/Cas system","volume":"4","author":"K Nakamura","year":"2014","journal-title":"Sci Rep"},{"issue":"10","key":"ref27","doi-asserted-by":"crossref","first-page":"e110371","DOI":"10.1371\/journal.pone.0110371","article-title":"Characterization of dystrophin deficient rats: a new model for Duchenne muscular dystrophy","volume":"9","author":"T Larcher","year":"2014","journal-title":"PLoS One"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s00335-011-9382-y","article-title":"Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies","volume":"23","author":"JN Kornegay","year":"2012","journal-title":"Mamm Genome"},{"issue":"3","key":"ref29","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1242\/dmm.018424","article-title":"Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy","volume":"8","author":"JW McGreevy","year":"2015","journal-title":"Dis Model Mech"},{"key":"ref30","first-page":"16","article-title":"Muscle Biopsy: A Practical Approach","author":"V Dubowitz","year":"2013"},{"issue":"12","key":"ref31","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1016\/j.nmd.2010.07.278","article-title":"Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle","volume":"20","author":"LT Guo","year":"2010","journal-title":"Neuromuscul Disord"},{"issue":"14","key":"ref32","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"H Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"9","key":"ref33","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"A McKenna","year":"2010","journal-title":"Genome Res"},{"key":"ref34","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"S Rozen","year":"2000","journal-title":"Methods Mol Biol"},{"issue":"4","key":"ref35","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"KJ Livak","year":"2001","journal-title":"Methods"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.omtm.2016.12.001","article-title":"Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes","volume":"4","author":"DJ VanBelzen","year":"2017","journal-title":"Mol Ther Methods Clin Dev"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/334154a0","article-title":"The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs","volume":"334","author":"BJ Cooper","year":"1988","journal-title":"Nature"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"2116","DOI":"10.1016\/S0140-6736(98)10028-4","article-title":"Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study","volume":"353","author":"EM Hoogerwaard","year":"1999","journal-title":"Lancet"},{"key":"ref39","first-page":"347","article-title":"Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy","volume":"9","author":"EM Hoogerwaard","year":"1999","journal-title":"Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy"},{"issue":"3","key":"ref40","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1002\/ajmg.1320420320","article-title":"Canine X-linked muscular dystrophy as an animal model of Duchenne muscular dystrophy: a review","volume":"42","author":"BA Valentine","year":"1992","journal-title":"Am J Med Genet"},{"issue":"1","key":"ref41","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S0195-5616(03)00081-0","article-title":"Muscular dystrophies and other inherited myopathies","volume":"32","author":"GD Shelton","year":"2002","journal-title":"The Veterinary clinics of North America Small animal practice"},{"issue":"6","key":"ref42","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S0960-8966(03)00025-7","article-title":"The cranial sartorius muscle undergoes true hypertrophy in dogs with golden retriever muscular dystrophy","volume":"13","author":"JN Kornegay","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"878","DOI":"10.2460\/javma.2000.216.878","article-title":"Hypertrophic muscular dystrophy in a young dog","volume":"16","author":"CA Wetterman","year":"2000","journal-title":"J Am Vet Med Assoc"},{"issue":"4","key":"ref44","doi-asserted-by":"crossref","first-page":"227","DOI":"10.5326\/0430227","article-title":"Dystrophin-deficient muscular dystrophy in a Weimaraner","volume":"43","author":"WI Baltzer","year":"2007","journal-title":"J Am Anim Hosp Assoc"},{"issue":"2","key":"ref45","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s00198-013-2442-2","article-title":"Risk of fracture in patients with muscular dystrophies","volume":"25","author":"S Pouwels","year":"2014","journal-title":"Osteoporos Int"},{"issue":"3","key":"ref46","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.rcl.2010.02.016","article-title":"Radiology of osteoporosis","volume":"48","author":"G Anil","year":"2010","journal-title":"Radiol Clin North Am"},{"issue":"2","key":"ref47","doi-asserted-by":"crossref","first-page":"207","DOI":"10.2460\/javma.238.2.207","article-title":"Clinical progression of X-linked muscular dystrophy in two German Shorthaired Pointers","volume":"238","author":"NJ Olby","year":"2011","journal-title":"J Am Vet Med Assoc"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1016\/j.nmd.2009.09.006","article-title":"Three distinguishable phenotypes in Golden Retriever muscular dystrophy","volume":"19","author":"GD Shelton","year":"2009","journal-title":"Neuromuscular Disorders"},{"issue":"8","key":"ref49","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1002\/(SICI)1097-4598(199808)21:8<991::AID-MUS2>3.0.CO;2-0","article-title":"Alternative dystrophin gene transcripts in golden retriever muscular dystrophy","volume":"21","author":"SJ Schatzberg","year":"1998","journal-title":"Muscle Nerve"},{"issue":"1","key":"ref50","first-page":"158","article-title":"Frameshift deletions of exons 3\u20137 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production","volume":"56","author":"AV Winnard","year":"1995","journal-title":"Am J Hum Genet"},{"issue":"20","key":"ref51","doi-asserted-by":"crossref","first-page":"3779","DOI":"10.1093\/hmg\/ddp320","article-title":"Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression","volume":"18","author":"F Daoud","year":"2009","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"ref52","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/dmcn.12922","article-title":"Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations","volume":"58","author":"V Ricotti","year":"2016","journal-title":"Dev Med Child Neurol"},{"issue":"2","key":"ref53","first-page":"250","article-title":"Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome","volume":"37","author":"U Francke","year":"1985","journal-title":"Am J Hum Genet"},{"issue":"11","key":"ref54","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1093\/clinchem\/40.11.2099","article-title":"Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome","volume":"40","author":"DE Cole","year":"1994","journal-title":"Clin Chem"},{"issue":"1","key":"ref55","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1046\/j.1365-2370.2000.00188.x","article-title":"Analysis of deletions in three McLeod patients: exclusion of the XS locus from the Xp21.1-Xp21.2 region","volume":"27","author":"W El Nemer","year":"2000","journal-title":"Eur J Immunogenet"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0193372","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T16:59:26Z","timestamp":1603904366000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0193372"}},"subtitle":[],"editor":[{"given":"Carlos E.","family":"Ambr\u00f3sio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2018,2,23]]},"references-count":55,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,2,23]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0193372","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,23]]}}}