{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T05:09:20Z","timestamp":1784696960229,"version":"3.55.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T00:00:00Z","timestamp":1559001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T00:00:00Z","timestamp":1559001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1007\/s00415-019-09380-3","type":"journal-article","created":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T21:22:34Z","timestamp":1559078554000},"page":"2177-2185","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort"],"prefix":"10.1007","volume":"266","author":[{"given":"Kiran","family":"Polavarapu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veeramani","family":"Preethish-Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepha","family":"Sekar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seena","family":"Vengalil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saraswati","family":"Nashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niranjan P.","family":"Mahajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya Treesa","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arun","family":"Sadasivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manjusha","family":"Warrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anupam","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gautham","family":"Arunachal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monojit","family":"Debnath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muddasu Suhasini","family":"Keerthipriya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chevula","family":"Pradeep-Chandra-Reddy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arpitha","family":"Puttegowda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anu P.","family":"John","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajitha","family":"Tavvala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swetha","family":"Gunasekaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talakad N.","family":"Sathyaprabha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadanandavalli Retnaswami","family":"Chandra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammo","family":"Delhaas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atchayaram","family":"Nalini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,5,28]]},"reference":[{"key":"9380_CR1","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1002\/mus.20586","volume":"34","author":"A Aartsma-Rus","year":"2006","unstructured":"Aartsma-Rus A, Van Deutekom JCT, Fokkema IF et al (2006) Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 34:135\u2013144. \n                    https:\/\/doi.org\/10.1002\/mus.20586","journal-title":"Muscle Nerve"},{"key":"9380_CR2","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1038\/ng0295-184","volume":"9","author":"CN Tennyson","year":"1995","unstructured":"Tennyson CN, Klamut HJ, Worton RG (1995) The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet 9:184\u2013190. \n                    https:\/\/doi.org\/10.1038\/ng0295-184","journal-title":"Nat Genet"},{"key":"9380_CR3","first-page":"498","volume":"45","author":"M Koenig","year":"1989","unstructured":"Koenig M, Beggs AH, Moyer M et al (1989) The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 45:498\u2013506","journal-title":"Am J Hum Genet"},{"key":"9380_CR4","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1136\/jmedgenet-2015-103387","volume":"53","author":"A Aartsma-Rus","year":"2016","unstructured":"Aartsma-Rus A, Ginjaar IB, Bushby K (2016) The importance of genetic diagnosis for Duchenne muscular dystrophy. J Med Genet 53:145\u2013151. \n                    https:\/\/doi.org\/10.1136\/jmedgenet-2015-103387","journal-title":"J Med Genet"},{"key":"9380_CR5","doi-asserted-by":"publisher","first-page":"1231","DOI":"10.1038\/sj.ejhg.5201465","volume":"13","author":"T Lalic","year":"2005","unstructured":"Lalic T, Vossen RHAM, Coffa J et al (2005) Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 13:1231\u20131234. \n                    https:\/\/doi.org\/10.1038\/sj.ejhg.5201465","journal-title":"Eur J Hum Genet"},{"key":"9380_CR6","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1002\/humu.20831","volume":"29","author":"MR Hegde","year":"2008","unstructured":"Hegde MR, Chin ELH, Mulle JG et al (2008) Microarray-based mutation detection in the dystrophin gene. Hum Mutat 29:1091\u20131099. \n                    https:\/\/doi.org\/10.1002\/humu.20831","journal-title":"Hum Mutat"},{"key":"9380_CR7","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1007\/s00439-005-1270-7","volume":"117","author":"V Gatta","year":"2005","unstructured":"Gatta V, Scarciolla O, Gaspari AR et al (2005) Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 117:92\u201398. \n                    https:\/\/doi.org\/10.1007\/s00439-005-1270-7","journal-title":"Hum Genet"},{"key":"9380_CR8","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1007\/s12031-013-9971-1","volume":"50","author":"AB Itto","year":"2013","unstructured":"Itto AB, Hamzi K, Bellayou H et al (2013) Evolution of molecular diagnosis of Duchenne muscular dystrophy. J Mol Neurosci MN 50:314\u2013316. \n                    https:\/\/doi.org\/10.1007\/s12031-013-9971-1","journal-title":"J Mol Neurosci MN"},{"key":"9380_CR9","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1002\/humu.20976","volume":"30","author":"S Tuffery-Giraud","year":"2009","unstructured":"Tuffery-Giraud S, B\u00e9roud C, Leturcq F et al (2009) Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat 30:934\u2013945. \n                    https:\/\/doi.org\/10.1002\/humu.20976","journal-title":"Hum Mutat"},{"key":"9380_CR10","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1002\/humu.22758","volume":"36","author":"CL Bladen","year":"2015","unstructured":"Bladen CL, Salgado D, Monges S et al (2015) The TREAT-NMD DMD global database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat 36:395\u2013402. \n                    https:\/\/doi.org\/10.1002\/humu.22758","journal-title":"Hum Mutat"},{"key":"9380_CR11","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1002\/humu.21114","volume":"30","author":"KM Flanigan","year":"2009","unstructured":"Flanigan KM, Dunn DM, von Niederhausern A et al (2009) Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 30:1657\u20131666. \n                    https:\/\/doi.org\/10.1002\/humu.21114","journal-title":"Hum Mutat"},{"key":"9380_CR12","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1186\/s13023-017-0703-4","volume":"12","author":"M Okubo","year":"2017","unstructured":"Okubo M, Goto K, Komaki H et al (2017) Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet J Rare Dis 12:149. \n                    https:\/\/doi.org\/10.1186\/s13023-017-0703-4","journal-title":"Orphanet J Rare Dis"},{"key":"9380_CR13","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/1471-2350-14-29","volume":"14","author":"J Yang","year":"2013","unstructured":"Yang J, Li SY, Li YQ et al (2013) MLPA-based genotype\u2013phenotype analysis in 1053 Chinese patients with DMD\/BMD. BMC Med Genet 14:29. \n                    https:\/\/doi.org\/10.1186\/1471-2350-14-29","journal-title":"BMC Med Genet"},{"key":"9380_CR14","doi-asserted-by":"publisher","first-page":"734","DOI":"10.4103\/0028-3886.59468","volume":"57","author":"B Swaminathan","year":"2009","unstructured":"Swaminathan B, Shubha GN, Shubha D et al (2009) Duchenne muscular dystrophy: a clinical, histopathological and genetic study at a neurology tertiary care center in Southern India. Neurol India 57:734\u2013738. \n                    https:\/\/doi.org\/10.4103\/0028-3886.59468","journal-title":"Neurol India"},{"key":"9380_CR15","doi-asserted-by":"publisher","first-page":"58","DOI":"10.4103\/0028-3886.152635","volume":"63","author":"M Manjunath","year":"2015","unstructured":"Manjunath M, Kiran P, Preethish-Kumar V et al (2015) A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study. Neurol India 63:58. \n                    https:\/\/doi.org\/10.4103\/0028-3886.152635","journal-title":"Neurol India"},{"key":"9380_CR16","doi-asserted-by":"publisher","first-page":"91","DOI":"10.3988\/jcn.2017.13.1.91","volume":"13","author":"S Vengalil","year":"2017","unstructured":"Vengalil S, Preethish-Kumar V, Polavarapu K et al (2017) Duchenne muscular dystrophy and becker muscular dystrophy confirmed by multiplex ligation-dependent probe amplification: genotype\u2013phenotype correlation in a large cohort. J Clin Neurol Seoul Korea 13:91\u201397. \n                    https:\/\/doi.org\/10.3988\/jcn.2017.13.1.91","journal-title":"J Clin Neurol Seoul Korea"},{"key":"9380_CR17","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1016\/j.nmd.2016.09.002","volume":"26","author":"K Polavarapu","year":"2016","unstructured":"Polavarapu K, Manjunath M, Preethish-Kumar V et al (2016) Muscle MRI in Duchenne muscular dystrophy: evidence of a distinctive pattern. Neuromuscul Disord 26:768\u2013774","journal-title":"Neuromuscul Disord"},{"key":"9380_CR18","doi-asserted-by":"publisher","first-page":"77","DOI":"10.4103\/0028-3886.222881","volume":"66","author":"R-J Singh","year":"2018","unstructured":"Singh R-J, Manjunath M, Preethish-Kumar V et al (2018) Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: an observational study from South India. Neurol India 66:77","journal-title":"Neurol India"},{"key":"9380_CR19","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1038\/jhg.2013.119","volume":"59","author":"T Lee","year":"2014","unstructured":"Lee T, Takeshima Y, Kusunoki N et al (2014) Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients. J Hum Genet 59:46\u201350. \n                    https:\/\/doi.org\/10.1038\/jhg.2013.119","journal-title":"J Hum Genet"},{"key":"9380_CR20","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.ncl.2014.05.002","volume":"32","author":"KM Flanigan","year":"2014","unstructured":"Flanigan KM (2014) Duchenne and Becker muscular dystrophies. Neurol Clin 32:671\u2013688. \n                    https:\/\/doi.org\/10.1016\/j.ncl.2014.05.002\n                    \n                  \n                           (viii)","journal-title":"Neurol Clin"},{"key":"9380_CR21","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1136\/archdischild-2014-306366","volume":"99","author":"HJA van Ruiten","year":"2014","unstructured":"van Ruiten HJA, Straub V, Bushby K, Guglieri M (2014) Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Arch Dis Child 99:1074\u20131077. \n                    https:\/\/doi.org\/10.1136\/archdischild-2014-306366","journal-title":"Arch Dis Child"},{"key":"9380_CR22","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1007\/s00415-011-5979-z","volume":"258","author":"F Magri","year":"2011","unstructured":"Magri F, Govoni A, D\u2019Angelo MG et al (2011) Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol 258:1610\u20131623. \n                    https:\/\/doi.org\/10.1007\/s00415-011-5979-z","journal-title":"J Neurol"},{"key":"9380_CR23","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1016\/j.nmd.2017.02.010","volume":"27","author":"D-N Wang","year":"2017","unstructured":"Wang D-N, Wang Z-Q, Yan L et al (2017) Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China. Neuromuscul Disord NMD 27:715\u2013722. \n                    https:\/\/doi.org\/10.1016\/j.nmd.2017.02.010","journal-title":"Neuromuscul Disord NMD"},{"key":"9380_CR24","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/j.pedneo.2017.02.004","volume":"59","author":"W-C Liang","year":"2018","unstructured":"Liang W-C, Wang C-H, Chou P-C et al (2018) The natural history of the patients with Duchenne muscular dystrophy in Taiwan: a medical center experience. Pediatr Neonatol 59:176\u2013183. \n                    https:\/\/doi.org\/10.1016\/j.pedneo.2017.02.004","journal-title":"Pediatr Neonatol"},{"key":"9380_CR25","first-page":"129","volume":"13","author":"M Maheshwari","year":"2000","unstructured":"Maheshwari M, Vijaya R, Kabra M et al (2000) Prenatal diagnosis of Duchenne muscular dystrophy. Natl Med J India 13:129\u2013131","journal-title":"Natl Med J India"},{"key":"9380_CR26","doi-asserted-by":"publisher","first-page":"91","DOI":"10.4103\/0971-6866.107987","volume":"18","author":"PK Verma","year":"2012","unstructured":"Verma PK, Dalal A, Mittal B, Phadke SR (2012) Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy. Indian J Hum Genet 18:91\u201394. \n                    https:\/\/doi.org\/10.4103\/0971-6866.96667","journal-title":"Indian J Hum Genet"},{"key":"9380_CR27","doi-asserted-by":"publisher","first-page":"e0135189","DOI":"10.1371\/journal.pone.0135189","volume":"10","author":"J Juan-Mateu","year":"2015","unstructured":"Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ et al (2015) DMD mutations in 576 dystrophinopathy families: a step forward in genotype\u2013phenotype correlations. PLoS One 10:e0135189. \n                    https:\/\/doi.org\/10.1371\/journal.pone.0135189","journal-title":"PLoS One"},{"key":"9380_CR28","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/j.nrl.2015.12.009","volume":"32","author":"I Vieitez","year":"2017","unstructured":"Vieitez I, Gallano P, Gonz\u00e1lez-Quereda L et al (2017) Espectro mutacional de la distrofia muscular de Duchenne en Espa\u00f1a: estudio de 284 casos. Neurolog\u00eda 32:377\u2013385. \n                    https:\/\/doi.org\/10.1016\/j.nrl.2015.12.009","journal-title":"Neurolog\u00eda"},{"key":"9380_CR29","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1002\/humu.21426","volume":"32","author":"KM Flanigan","year":"2011","unstructured":"Flanigan KM, Dunn DM, von Niederhausern A et al (2011) Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat 32:299\u2013308. \n                    https:\/\/doi.org\/10.1002\/humu.21426","journal-title":"Hum Mutat"},{"key":"9380_CR30","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s11940-018-0513-6","volume":"20","author":"M Crone","year":"2018","unstructured":"Crone M, Mah JK (2018) Current and emerging therapies for duchenne muscular dystrophy. Curr Treat Options Neurol 20:31. \n                    https:\/\/doi.org\/10.1007\/s11940-018-0513-6","journal-title":"Curr Treat Options Neurol"},{"key":"9380_CR31","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1002\/humu.20918","volume":"30","author":"A Aartsma-Rus","year":"2009","unstructured":"Aartsma-Rus A, Fokkema I, Verschuuren J et al (2009) Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 30:293\u2013299. \n                    https:\/\/doi.org\/10.1002\/humu.20918","journal-title":"Hum Mutat"},{"key":"9380_CR32","doi-asserted-by":"publisher","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","volume":"390","author":"CM McDonald","year":"2017","unstructured":"McDonald CM, Campbell C, Torricelli RE et al (2017) Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet Lond Engl 390:1489\u20131498. \n                    https:\/\/doi.org\/10.1016\/S0140-6736(17)31611-2","journal-title":"Lancet Lond Engl"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-019-09380-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-019-09380-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-019-09380-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T23:09:38Z","timestamp":1590534578000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-019-09380-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,28]]},"references-count":32,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["9380"],"URL":"https:\/\/doi.org\/10.1007\/s00415-019-09380-3","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,28]]},"assertion":[{"value":"19 February 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 May 2019","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 May 2019","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 May 2019","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"Approval from \u2018Institutional Ethics Committee\u2019 has been obtained.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical standards"}}]}}