{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:11:18Z","timestamp":1790766678106,"version":"4.1.0"},"reference-count":73,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T00:00:00Z","timestamp":1638835200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Duchenne and Becker muscular dystrophy are X-linked recessive inherited disorders characterized by progressive weakness due to skeletal muscle degeneration. Different mutations in the <jats:italic>DMD<\/jats:italic> gene, which encodes for dystrophin protein, are responsible for these disorders. The aim of our study was to investigate the relationship between type, size, and location of the mutation that occurs in the <jats:italic>DMD<\/jats:italic> gene and their effect on dystrophin protein expression in a cohort of 40 male dystrophinopathy patients and nine females, possible carriers. We evaluated the expression of dystrophin by immunofluorescence and immunoblotting. The mutational spectrum of the <jats:italic>DMD<\/jats:italic> gene was established by MLPA for large copy number variants, followed by HRM analysis for point mutations and sequencing of samples with an abnormal melting profile. MLPA revealed 30 deletions (75%) and three duplications (7.5%). HRM analysis accounted for seven-point mutations (17.5%). We also report four novel small mutations (c. 8507G&amp;gt;T, c.3021delG, c.9563_9563+1insAGCATGTTTATGATACAGCA, c.7661-60T&amp;gt;A) in <jats:italic>DMD<\/jats:italic> gene. Our work shows that the DNA translational open reading frame and the location of the mutation both influence the expression of dystrophin and disease severity phenotype. The proposed algorithm used in this study demonstrates its accuracy for the characterization of dystrophinopathy patients.<\/jats:p>","DOI":"10.3389\/fneur.2021.718396","type":"journal-article","created":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T14:16:14Z","timestamp":1638886574000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies"],"prefix":"10.3389","volume":"12","author":[{"given":"Gisela","family":"Gaina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf H. A. M.","family":"Vossen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Manole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doina Anca","family":"Plesca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Ionica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,12,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/0960-8966(91)90039-U","article-title":"Population frequencies of inherited neuromuscular diseases\u2014a world survey","volume":"1","author":"Emery","year":"1991","journal-title":"Neuromuscul Disord."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1016\/0140-6736(91)92671-N","article-title":"Prevalence and incidence of Becker muscular dystrophy","volume":"337","author":"Bushby","year":"1991","journal-title":"Lancet."},{"key":"B3","doi-asserted-by":"publisher","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":"Koenig","year":"1988","journal-title":"Cell."},{"key":"B4","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1038\/ng0493-283","article-title":"The structural and functional diversity of dystrophin","volume":"3","author":"Ahn","year":"1993","journal-title":"Nat Genet."},{"key":"B5","doi-asserted-by":"publisher","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":"Hoffman","year":"1987","journal-title":"Cell."},{"key":"B6","doi-asserted-by":"publisher","first-page":"14","DOI":"10.17305\/bjbms.2015.636","article-title":"Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies","volume":"15","author":"Le Rumeur","year":"2015","journal-title":"Bosn J Basic Med Sci."},{"key":"B7","doi-asserted-by":"publisher","first-page":"8822","DOI":"10.1074\/jbc.M805846200","article-title":"A Two-amino acid mutation encountered in Duchenne muscular dystrophy decreases stability of the rod domain 23 (R23) spectrin-like repeat of dystrophin","volume":"284","author":"Legardinier","year":"2009","journal-title":"J Biol Chem."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1016\/0092-8674(91)90035-W","article-title":"Membrane organization of the dystrophin-glycoprotein complex","volume":"66","author":"Ervasti","year":"1991","journal-title":"Cell."},{"key":"B9","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/0014-5793(92)81265-N","article-title":"Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain","volume":"308","author":"Suzuki","year":"1992","journal-title":"FEBS Lett."},{"key":"B10","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1083\/jcb.122.4.809","article-title":"A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin","volume":"122","author":"Ervasti","year":"1993","journal-title":"J Cell Biol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"39287","DOI":"10.1074\/jbc.M305551200","article-title":"Skeletal muscle signaling pathway through the dystrophin glycoprotein complex and Rac1","volume":"278","author":"Oak","year":"2003","journal-title":"J Biol Chem."},{"key":"B12","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1016\/0092-8674(95)90471-9","article-title":"Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy","volume":"82","author":"Brenman","year":"1995","journal-title":"Cell."},{"key":"B13","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals","volume":"50","author":"Koenig","year":"1987","journal-title":"Cell."},{"key":"B14","doi-asserted-by":"publisher","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":"Monaco","year":"1988","journal-title":"Genomics."},{"key":"B15","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: one gene several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1126\/science.3055295","article-title":"Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy","volume":"242","author":"Malhotra","year":"1988","journal-title":"Science."},{"key":"B17","doi-asserted-by":"publisher","first-page":"165766","DOI":"10.1002\/humu.21114","article-title":"Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort","volume":"30","author":"Flanigan","year":"2009","journal-title":"Hum Mutat."},{"key":"B18","doi-asserted-by":"publisher","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":"Aartsma-Rus","year":"2006","journal-title":"Muscle Nerve."},{"key":"B19","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1007\/BF00283688","article-title":"Molecular deletion patterns in Duchenne and Becker type muscular dystrophy","volume":"81","author":"Liechti-Gallati","year":"1989","journal-title":"Hum Genet."},{"key":"B20","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1172\/JCI36612","article-title":"Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy","volume":"119","author":"Lai","year":"2009","journal-title":"J Clin Invest."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1016\/S0002-9440(10)65354-0","article-title":"Multiplex Western blotting system for the analysis of muscular dystrophy proteins","volume":"154","author":"Anderson","year":"1999","journal-title":"Am J Pathol."},{"key":"B22","first-page":"3729","article-title":"Muscular dystrophies proteins evaluation by western blot and immunofluorescence","volume":"13","author":"Gaina","year":"2008","journal-title":"Rom Biotechnol Lett."},{"key":"B23","doi-asserted-by":"publisher","first-page":"860","DOI":"10.1002\/humu.21019","article-title":"High-resolution melting analysis (HRMA): more than just sequence variant screening","volume":"30","author":"Vossen","year":"2009","journal-title":"Hum Mutat"},{"key":"B24","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/j.nmd.2009.03.004","article-title":"Rapid and cost-effective detection of small mutations in the DMD gene by high resolution melting curve analysis","volume":"19","author":"Almomani","year":"2009","journal-title":"Neuromuscul Disord."},{"key":"B25","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1186\/s13023-018-0853-z","article-title":"Comprehensive genetic characteristics of dystrophinopathies in China","volume":"13","author":"Ma","year":"2018","journal-title":"Orphanet J Rare Dis."},{"key":"B26","doi-asserted-by":"publisher","first-page":"2329048X15585345","DOI":"10.1177\/2329048X15585345","article-title":"Prevalence and characteristics of Chinese patients with Duchenne and Becker muscular dystrophy","volume":"2","author":"Chan","year":"2015","journal-title":"Child Neurol Open."},{"key":"B27","volume-title":"Duchenne Muscular Dystrophy: Mutation Profiling in View of the Emerging Gene-Based Therapies","author":"Esterhuizen","year":"2010"},{"key":"B28","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1038\/ng.367","article-title":"A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation","volume":"41","author":"Tarpey","year":"2009","journal-title":"Nat Genet."},{"key":"B29","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1016\/0960-8966(94)90073-6","article-title":"Mutation of dystrophin gene and cardiomyopathy","volume":"4","author":"Nigro","year":"1994","journal-title":"Neuromuscul Disord."},{"key":"B30","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1007\/s12041-016-0641-2","article-title":"Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants","volume":"95","author":"Haghshenas","year":"2016","journal-title":"J Genet."},{"key":"B31","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1086\/374176","article-title":"Rapid direct sequence analysis of the dystrophin gene","volume":"72","author":"Flanigan","year":"2003","journal-title":"Am J Hum Genet."},{"key":"B32","doi-asserted-by":"publisher","first-page":"7154","DOI":"10.1073\/pnas.86.18.7154","article-title":"Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses","volume":"86","author":"Arahata","year":"1989","journal-title":"Proc Natl Acad Sci USA."},{"key":"B33","doi-asserted-by":"publisher","first-page":"e107494","DOI":"10.1371\/journal.pone.0107494","article-title":"A sensitive, reproducible and objective immunofluorescence analysis method of dystrophin in individual fibers in samples from patients with Duchenne muscular dystrophy","volume":"9","author":"Beekman","year":"2014","journal-title":"PLoS ONE."},{"key":"B34","doi-asserted-by":"publisher","first-page":"3547","DOI":"10.1093\/brain\/awr291","article-title":"Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials","volume":"134","author":"Anthony","year":"2011","journal-title":"Brain"},{"key":"B35","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1016\/j.bbapap.2010.05.001","article-title":"Dystrophin: more than just the sum of its parts","volume":"1804","author":"Le Rumeur","year":"2010","journal-title":"Biochim Biophys Acta."},{"key":"B36","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1002\/mus.880181007","article-title":"Dystrophin-positive fibers in Duchenne dystrophy: origin and correlation to clinical course","volume":"18","author":"Fanin","year":"1995","journal-title":"Muscle Nerve."},{"key":"B37","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1016\/j.nmd.2010.03.007","article-title":"Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials","volume":"20","author":"Arechavala-Gomeza","year":"2010","journal-title":"Neuromuscul Disord."},{"key":"B38","doi-asserted-by":"publisher","first-page":"892","DOI":"10.1136\/jmg.29.12.892","article-title":"Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame","volume":"29","author":"Nicholson","year":"1992","journal-title":"J Med Genet."},{"key":"B39","doi-asserted-by":"publisher","first-page":"5952","DOI":"10.1038\/s41598-021-84863-w","article-title":"Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay","volume":"11","author":"Koeks","year":"2021","journal-title":"Sci Rep."},{"key":"B40","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1007\/BF00200919","article-title":"Genotype-phenotype correlation and germline mosaicism in DMD\/BMD patients with deletions of the dystrophin gene","volume":"87","author":"Covone","year":"1991","journal-title":"Hum Genet."},{"key":"B41","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1038\/sj.ejhg.5201465","article-title":"Deletion and duplication screening in the DMD gene using MLPA","volume":"13","author":"Lalic","year":"2005","journal-title":"Eur J Hum Genet."},{"key":"B42","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1093\/hmg\/2.6.737","article-title":"Characterization of translational frame exception patients in Duchenne\/Becker muscular dystrophy","volume":"2","author":"Winnard","year":"1993","journal-title":"Hum Mol Genet."},{"key":"B43","doi-asserted-by":"publisher","first-page":"325210","DOI":"10.1155\/2009\/325210","article-title":"Duchenne and Becker muscular dystrophy: contribution of a molecular and immunohistochemical analysis in diagnosis in Morocco","volume":"2009","author":"Bellayou","year":"2009","journal-title":"J Biomed Biotechnol."},{"key":"B44","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1515\/BC.1999.057","article-title":"The WW domain of dystrophin requires EF-hands region to interact with beta-dystroglycan","volume":"380","author":"Rentschler","year":"1999","journal-title":"Biol Chem."},{"key":"B45","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.nmd.2012.09.002","article-title":"The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice","volume":"23","author":"Ferlini","year":"2013","journal-title":"Neuromuscul Disord."},{"key":"B46","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1038\/nm0302-253","article-title":"Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy","volume":"8","author":"Harper","year":"2002","journal-title":"Nat Med."},{"key":"B47","doi-asserted-by":"publisher","first-page":"42","DOI":"10.17305\/bjbms.2015.300","article-title":"Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies","volume":"15","author":"Liang","year":"2015","journal-title":"Bosn J Basic Med Sci."},{"key":"B48","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1046\/J.1469-1809.2005.00160.x","article-title":"Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity","volume":"69","author":"Carsana","year":"2005","journal-title":"Ann Hum Genet"},{"key":"B49","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/1471-2350-14-29","article-title":"MLPA-based genotype\u2013phenotype analysis in 1053 Chinese patients with DMD\/BMD","volume":"14","author":"Yang","year":"2012","journal-title":"Med Genetik."},{"key":"B50","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1002\/cm.20489","article-title":"Exon-skipped dystrophins for treatment of Duchenne muscular dystrophy: mass spectrometry mapping of most exons and cooperative domain designs based on single molecule mechanics","volume":"67","author":"Krieger","year":"2010","journal-title":"Cytoskeleton."},{"key":"B51","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1016\/S0006-3495(96)79363-3","article-title":"Stability of the dystrophin rod domain fold: evidence for nested repeating units","volume":"71","author":"Calvert","year":"1996","journal-title":"Biophys J."},{"key":"B52","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1136\/bjo.2010.186882","article-title":"Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1","volume":"95","author":"Henderson","year":"2011","journal-title":"Br J Ophthalmol."},{"key":"B53","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1007\/BF00217354","article-title":"Patterns of deletions of the dystrophin gene in different European populations","volume":"91","author":"Danieli","year":"1993","journal-title":"Hum Genet."},{"key":"B54","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1089\/gte.2004.8.361","article-title":"Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method","volume":"8","author":"Schwartz","year":"2004","journal-title":"Genet Test."},{"key":"B55","first-page":"835","article-title":"Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications","volume":"45","author":"Den Dunnen","year":"1989","journal-title":"Am J Hum Genet"},{"key":"B56","doi-asserted-by":"publisher","first-page":"5334","DOI":"10.3390\/ijms16035334","article-title":"Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies","volume":"16","author":"L\u00f3pez-Hern\u00e1ndez","year":"2015","journal-title":"Int J Mol Sci."},{"key":"B57","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1016\/j.nmd.2008.10.011","article-title":"Dystrophin gene analysis in Hungarian Duchenne\/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives","volume":"19","author":"Pik\u00f3","year":"2009","journal-title":"Neuromuscul Disord."},{"key":"B58","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1016\/S1525-1578(10)60560-0","article-title":"Experience and strategy for the molecular testing of Duchenne muscular dystrophy","volume":"7","author":"Prior","year":"2005","journal-title":"J Mol Diagn."},{"key":"B59","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1093\/hmg\/1.8.599","article-title":"Two hot spots of recombination in the DMD gene correlate with the deletion prone regions","volume":"1","author":"Oudet","year":"1992","journal-title":"Hum Mol Genet."},{"key":"B60","doi-asserted-by":"publisher","first-page":"e40066","DOI":"10.1371\/journal.pone.0040066","article-title":"The crystal structures of dystrophin and utrophin spectrin repeats: implications for domain boundaries","volume":"7","author":"Muthu","year":"2012","journal-title":"PLoS ONE."},{"key":"B61","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1136\/jmg.23.6.494","article-title":"Duchenne muscular dystrophy in one of monozygotic twin girls","volume":"23","author":"Burn","year":"1986","journal-title":"J Med Genet."},{"key":"B62","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1007\/s00439-016-1666-6","article-title":"Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy","volume":"135","author":"Viggiano","year":"2016","journal-title":"Hum Genet."},{"key":"B63","doi-asserted-by":"publisher","first-page":"e0135189","DOI":"10.1371\/journal.pone.0135189","article-title":"DMD mutations in 576 dystrophinopathy families: a step forward in genotype\u2013phenotype correlations","volume":"10","author":"Juan-Mateu","year":"2015","journal-title":"PLoS ONE."},{"key":"B64","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1136\/jmedgenet-2015-103387","article-title":"The importance of genetic diagnosis for Duchenne muscular dystrophy","volume":"53","author":"Aartsma-Rus","year":"2016","journal-title":"J Med Genet."},{"key":"B65","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1002\/cphy.c140048","article-title":"The Dystrophin Complex: structure, function, and implications for therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr Physiol."},{"key":"B66","doi-asserted-by":"publisher","first-page":"546","DOI":"10.1016\/j.jmb.2009.04.025","article-title":"Mapping of the lipid-binding and stability properties of the central rod domain of human dystrophin","volume":"389","author":"Legardinier","year":"2009","journal-title":"J Mol Biol."},{"key":"B67","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1042\/BJ20061051","article-title":"ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site","volume":"401","author":"Hnia","year":"2007","journal-title":"Biochem J."},{"key":"B68","doi-asserted-by":"publisher","first-page":"e57","DOI":"10.1093\/nar\/gnf056","article-title":"Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification","volume":"30","author":"Schouten","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"B69","doi-asserted-by":"publisher","first-page":"e44","DOI":"10.1038\/mtna.2012.38","article-title":"Long-term exon skipping studies with 2\u2032-o-methyl phosphorothioate antisense oligonucleotides in dystrophic mouse models","volume":"1","author":"Tanganyika-de Winter","year":"2012","journal-title":"Mol Ther Nucleic Acids"},{"key":"B70","doi-asserted-by":"publisher","first-page":"533","DOI":"10.2147\/DDDT.S97635","article-title":"Eteplirsen in the treatment of Duchenne muscular dystrophy","volume":"11","author":"Lim","year":"2017","journal-title":"Drug Des Devel Ther."},{"key":"B71","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/S0140-6736(11)60756-3","article-title":"Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study","volume":"378","author":"Cirak","year":"2011","journal-title":"Lancet."},{"key":"B72","first-page":"209","article-title":"Utrophin upregulation in Duchenne muscular dystrophy","volume":"24","author":"Hirst","year":"2005","journal-title":"Acta Myol"},{"key":"B73","doi-asserted-by":"publisher","first-page":"96ra78","DOI":"10.1126\/scitranslmed.3002342","article-title":"Stem cell-mediated transfer of a human artificial chromosome ameliorates muscular dystrophy","volume":"3","author":"Tedesco","year":"2011","journal-title":"Sci Transl Med"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.718396\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T14:16:20Z","timestamp":1638886580000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.718396\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,7]]},"references-count":73,"alternative-id":["10.3389\/fneur.2021.718396"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2021.718396","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,7]]},"article-number":"718396"}}