{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T12:07:18Z","timestamp":1792066038711,"version":"4.4.0"},"reference-count":50,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2019,1,30]],"date-time":"2019-01-30T00:00:00Z","timestamp":1548806400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2019,1,30]]},"DOI":"10.3233\/jnd-180357","type":"journal-article","created":{"date-parts":[[2019,1,4]],"date-time":"2019-01-04T10:38:45Z","timestamp":1546598325000},"page":"147-159","source":"Crossref","is-referenced-by-count":56,"title":["Report of a TREAT-NMD\/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology"],"prefix":"10.1177","volume":"6","author":[{"given":"Annemieke","family":"Aartsma-Rus","sequence":"first","affiliation":[{"name":"Leiden University Medical Center, Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the workshop participants","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Morgan","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pallavi","family":"Lonkar","sequence":"additional","affiliation":[{"name":"Wave Life Sciences, Cambridge, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hendrik","family":"Neubert","sequence":"additional","affiliation":[{"name":"Pfizer Inc, BioMedicine Design 1 Burtt Road, Andover, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Owens","sequence":"additional","affiliation":[{"name":"Pfizer Inc, Rare Disease Research Unit, 610 Main Street, Cambridge, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Binks","sequence":"additional","affiliation":[{"name":"Pfizer Inc, Rare Disease Research Unit, 610 Main Street, Cambridge, MA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisol","family":"Montolio","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Fisiology and Immunology, Faculty of Biology, University of Barcelona"},{"name":"Duchenne Parent Project Spain, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Phadke","sequence":"additional","affiliation":[{"name":"National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Datson","sequence":"additional","affiliation":[{"name":"BioMarin Nederland BV, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Van Deutekom","sequence":"additional","affiliation":[{"name":"BioMarin Nederland BV, Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenn E.","family":"Morris","sequence":"additional","affiliation":[{"name":"Wolfson Centre for Inherited Neuromuscular Disease, Keele University and RJAH Orthopaedic Hospital, Oswestry, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Ashutosh","family":"Rao","sequence":"additional","affiliation":[{"name":"Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, Maryland, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Binghamton University-SUNY, Binghamton, NY, USA and AGADA BioSciences, Halifax, Nova Scotia, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom"},{"name":"National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London WC1, N 1EH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Arechavala-Gomeza","sequence":"additional","affiliation":[{"name":"Biocruces Bizkaia Health Research Institute, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"5","key":"10.3233\/JND-180357_ref1","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.nmd.2010.03.005","article-title":"The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009","volume":"20","author":"Muntoni","year":"2010","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"10.3233\/JND-180357_ref2","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/s41582-018-0033-8","article-title":"Why dystrophin quantification is key in the eteplirsen saga","volume":"14","author":"Aartsma-Rus","year":"2018","journal-title":"Nat Rev Neurol"},{"issue":"8","key":"10.3233\/JND-180357_ref3","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/S1474-4422(16)30035-7","article-title":"Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy","volume":"15","author":"Straub","year":"2016","journal-title":"Lancet Neurol"},{"issue":"5","key":"10.3233\/JND-180357_ref4","doi-asserted-by":"crossref","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"},{"issue":"5","key":"10.3233\/JND-180357_ref5","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1083\/jcb.148.5.985","article-title":"Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion","volume":"148","author":"Lu","year":"2000","journal-title":"J Cell Biol"},{"issue":"1","key":"10.3233\/JND-180357_ref6","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1001\/jamaneurol.2013.4908","article-title":"Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping","volume":"71","author":"Anthony","year":"2014","journal-title":"JAMA neurology"},{"issue":"7","key":"10.3233\/JND-180357_ref7","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1136\/jnnp-2013-306350","article-title":"Dystrophin levels and clinical severity in Becker muscular dystrophy patients","volume":"85","author":"van den Bergen","year":"2014","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.3233\/JND-180357_ref8","doi-asserted-by":"crossref","first-page":"16105","DOI":"10.1038\/ncomms16105","article-title":"Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy","volume":"8","author":"Le Guiner","year":"2017","journal-title":"Nat Commun"},{"issue":"22","key":"10.3233\/JND-180357_ref9","doi-asserted-by":"crossref","first-page":"2062","DOI":"10.1212\/WNL.0000000000001025","article-title":"Dystrophin quantification: Biological and translational research implications","volume":"83","author":"Anthony","year":"2014","journal-title":"Neurology"},{"issue":"4","key":"10.3233\/JND-180357_ref10","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1365-2990.2009.01056.x","article-title":"Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression","volume":"36","author":"Arechavala-Gomeza","year":"2010","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"6","key":"10.3233\/JND-180357_ref11","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1111\/j.1365-2990.2012.01250.x","article-title":"Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens","volume":"38","author":"Taylor","year":"2012","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"9","key":"10.3233\/JND-180357_ref12","doi-asserted-by":"crossref","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"},{"issue":"10","key":"10.3233\/JND-180357_ref14","doi-asserted-by":"crossref","first-page":"e108205","DOI":"10.1371\/journal.pone.0108205","article-title":"Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes","volume":"9","author":"Pane","year":"2014","journal-title":"PLoS One"},{"issue":"4","key":"10.3233\/JND-180357_ref15","doi-asserted-by":"crossref","first-page":"e0195850","DOI":"10.1371\/journal.pone.0195850","article-title":"Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy","volume":"13","author":"Beekman","year":"2018","journal-title":"PLoS One"},{"issue":"299","key":"10.3233\/JND-180357_ref16","doi-asserted-by":"crossref","first-page":"299rv4","DOI":"10.1126\/scitranslmed.aaa7322","article-title":"Immune-mediated pathology in Duchenne muscular dystrophy","volume":"7","author":"Rosenberg","year":"2015","journal-title":"Sci Transl Med"},{"issue":"2","key":"10.3233\/JND-180357_ref17","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":"Koenig","year":"1988","journal-title":"Cell"},{"issue":"Pt 12","key":"10.3233\/JND-180357_ref18","doi-asserted-by":"crossref","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"},{"issue":"2","key":"10.3233\/JND-180357_ref19","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":"Aartsma-Rus","year":"2006","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.3233\/JND-180357_ref20","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/1750-1172-7-45","article-title":"Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database","volume":"7","author":"Nicolas","year":"2012","journal-title":"Orphanet journal of rare diseases"},{"issue":"18","key":"10.3233\/JND-180357_ref21","doi-asserted-by":"crossref","first-page":"6637","DOI":"10.1074\/jbc.M117.809798","article-title":"Dystrophin\u2019s central domain forms a complex filament that becomes disorganized by in-frame deletions","volume":"293","author":"Delalande","year":"2018","journal-title":"J Biol Chem"},{"issue":"8","key":"10.3233\/JND-180357_ref22","doi-asserted-by":"crossref","first-page":"e43515","DOI":"10.1371\/journal.pone.0043515","article-title":"Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins","volume":"7","author":"Johnson","year":"2012","journal-title":"PLoS One"},{"issue":"10","key":"10.3233\/JND-180357_ref23","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1016\/j.ymthe.2018.07.011","article-title":"Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy","volume":"26","author":"Duan","year":"2018","journal-title":"Mol Ther"},{"issue":"3","key":"10.3233\/JND-180357_ref24","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/nm0302-253","volume":"8","author":"Harper","year":"2002","journal-title":"Nat Med"},{"issue":"7","key":"10.3233\/JND-180357_ref25","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1089\/hum.2018.012","article-title":"Micro-Dystrophin Gene Therapy Goes Systemic in Duchenne Muscular Dystrophy Patients","volume":"29","author":"Duan","year":"2018","journal-title":"Hum Gene Ther"},{"issue":"1","key":"10.3233\/JND-180357_ref26","first-page":"54","article-title":"Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies","volume":"49","author":"Beggs","year":"1991","journal-title":"Am J Hum Genet"},{"issue":"8","key":"10.3233\/JND-180357_ref27","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1212\/WNL.39.8.1011","article-title":"Improved diagnosis of Becker muscular dystrophy by dystrophin testing","volume":"39","author":"Hoffman","year":"1989","journal-title":"Neurology"},{"issue":"21","key":"10.3233\/JND-180357_ref28","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1056\/NEJM198805263182104","article-title":"Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne\u2019s or Becker\u2019s muscular dystrophy","volume":"318","author":"Hoffman","year":"1988","journal-title":"N Engl J Med"},{"issue":"11-12","key":"10.3233\/JND-180357_ref29","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.nmd.2007.07.005","article-title":"Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human","volume":"17","author":"Neri","year":"2007","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.3233\/JND-180357_ref30","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/jnnp-2012-304729","article-title":"Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy","volume":"85","author":"van den Bergen","year":"2014","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"6","key":"10.3233\/JND-180357_ref31","doi-asserted-by":"crossref","first-page":"2484","DOI":"10.1096\/fj.12-224170","article-title":"Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin\/utrophin double-knockout mice","volume":"27","author":"van Putten","year":"2013","journal-title":"FASEB J"},{"issue":"10","key":"10.3233\/JND-180357_ref32","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1016\/j.celrep.2015.07.066","article-title":"TNF-alpha-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy","volume":"12","author":"Fiorillo","year":"2015","journal-title":"Cell reports"},{"issue":"15","key":"10.3233\/JND-180357_ref33","doi-asserted-by":"crossref","first-page":"4225","DOI":"10.1093\/hmg\/ddv155","article-title":"How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse","volume":"24","author":"Godfrey","year":"2015","journal-title":"Hum Mol Genet"},{"issue":"5","key":"10.3233\/JND-180357_ref34","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.nmd.2018.02.013","article-title":"Low dystrophin levels are insufficient to normalize the neuromuscular synaptic abnormalities of mdx mice","volume":"28","author":"van der Pijl","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"10","key":"10.3233\/JND-180357_ref35","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/S1474-4422(14)70195-4","article-title":"Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study","volume":"13","author":"Voit","year":"2014","journal-title":"Lancet Neurol"},{"issue":"9791","key":"10.3233\/JND-180357_ref36","doi-asserted-by":"crossref","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"},{"issue":"5","key":"10.3233\/JND-180357_ref37","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/ana.23982","article-title":"Eteplirsen for the treatment of Duchenne muscular dystrophy","volume":"74","author":"Mendell","year":"2013","journal-title":"Ann Neurol"},{"issue":"9","key":"10.3233\/JND-180357_ref38","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1038\/gt.2014.53","article-title":"Exon skipping restores dystrophin expression, but fails to prevent disease progression in later stage dystrophic dko mice","volume":"21","author":"Wu","year":"2014","journal-title":"Gene Ther"},{"issue":"11","key":"10.3233\/JND-180357_ref39","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.5858\/arpa.2013-0610-CP","article-title":"Principles of analytic validation of immunohistochemical assays: Guideline from the College of American Pathologists Pathology and Laboratory Quality Center","volume":"138","author":"Fitzgibbons","year":"2014","journal-title":"Arch Pathol Lab Med"},{"issue":"1","key":"10.3233\/JND-180357_ref41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1369\/jhc.2008.952770","article-title":"A guide to the perplexed on the specificity of antibodies","volume":"57","author":"Saper","year":"2009","journal-title":"J Histochem Cytochem"},{"issue":"4","key":"10.3233\/JND-180357_ref42","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/cne.20839","article-title":"An open letter to our readers on the use of antibodies","volume":"493","author":"Saper","year":"2005","journal-title":"J Comp Neurol"},{"issue":"8","key":"10.3233\/JND-180357_ref43","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1212\/01.WNL.0000058902.88181.3D","article-title":"The phenotype of limb-girdle muscular dystrophy type 2I","volume":"60","author":"Poppe","year":"2003","journal-title":"Neurology"},{"issue":"8","key":"10.3233\/JND-180357_ref44","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1038\/ejhg.2012.269","article-title":"Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age","volume":"21","author":"Mercier","year":"2013","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"10.3233\/JND-180357_ref45","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1369\/0022155414545224","article-title":"Controls for immunohistochemistry: the Histochemical Society\u2019s standards of practice for validation of immunohistochemical assays","volume":"62","author":"Hewitt","year":"2014","journal-title":"J Histochem Cytochem"},{"issue":"23","key":"10.3233\/JND-180357_ref46","doi-asserted-by":"crossref","first-page":"7153","DOI":"10.1073\/pnas.1507719112","article-title":"Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy","volume":"112","author":"Hathout","year":"2015","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"10.3233\/JND-180357_ref47","doi-asserted-by":"crossref","first-page":"e0194540","DOI":"10.1371\/journal.pone.0194540","article-title":"A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples","volume":"13","author":"Sardone","year":"2018","journal-title":"PLoS One"},{"issue":"1","key":"10.3233\/JND-180357_ref48","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.nmd.2017.10.004","article-title":"A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy","volume":"28","author":"Goemans","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"10.3233\/JND-180357_ref49","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/0014-5793(90)80199-S","article-title":"Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin","volume":"262","author":"Nguyen thi","year":"1990","journal-title":"FEBS Lett"},{"issue":"3","key":"10.3233\/JND-180357_ref50","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1006\/bbrc.1995.1605","article-title":"The N-Terminal Half of Dystrophin Is Protected from Proteolysis in Situ","volume":"209","author":"Hori","year":"1995","journal-title":"Biochemical and Biophysical Research Communications"},{"issue":"8","key":"10.3233\/JND-180357_ref51","doi-asserted-by":"crossref","first-page":"4239","DOI":"10.1021\/acs.analchem.5b03900","article-title":"Quantitative Analysis of Human Neonatal Fc Receptor (FcRn) Tissue Expression in Transgenic Mice by Online Peptide Immuno-Affinity LC-HRMS","volume":"88","author":"Fan","year":"2016","journal-title":"Anal Chem"},{"key":"10.3233\/JND-180357_ref52","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/nan.12448","article-title":"Myoblots: dystrophin quantification by in-cell western assay for a streamlined development of Duchenne muscular dystrophy (DMD) treatments","volume":"44","author":"Ruiz-Del-Yerro","year":"2018","journal-title":"Neuropathol Appl Neurobiol"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"link":[{"URL":"https:\/\/content.iospress.com\/download?id=10.3233\/JND-180357","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:53:37Z","timestamp":1777506817000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.3233\/JND-180357"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,30]]},"references-count":50,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.3233\/jnd-180357","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,30]]}}}