{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:11:40Z","timestamp":1790813500262,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>We report the molecular analysis of the <jats:italic>DMD<\/jats:italic> gene in a group of Peruvian patients with Duchenne\/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used the combination of multiplex ligation\u2010dependent probe amplification (MLPA) and sequencing analysis of the <jats:italic>DMD<\/jats:italic> gene. We recruited Peruvian patients in 2\u00a0years from reference national hospitals. We performed DNA tests in 152 patients, checking first exon deletion\/duplication by MLPA, and subsequently, if negative, samples were sequenced to detect point mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The average age for diagnosis was 9.8\u00a0years, suggesting a delay for timely diagnosis and care. We found causal <jats:italic>DMD<\/jats:italic> mutations in 125 patients: 72 (57.6%) exon deletions\/duplications (41.6% deletions, 16.0% duplications), and 53 (42.4%) point mutations (27.2% nonsense, 9.6% small indels, and 5.6% splice site).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Due to our genetic background, we expected a higher number of novel and recurrent causal mutations in our sample. Results showed 16% of novel mutations, similar to other well\u2010studied populations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1759","type":"journal-article","created":{"date-parts":[[2021,7,30]],"date-time":"2021-07-30T06:57:31Z","timestamp":1627628251000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["MLPA followed by target\u2010NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD\/DMB"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5457-231X","authenticated-orcid":false,"given":"Mar\u00eda Luisa","family":"Guevara\u2010Fujita","sequence":"first","affiliation":[{"name":"Centro de Gen\u00e9tica y Biolog\u00eda Molecular Instituto de Investigaci\u00f3n Facultad de Medicina Humana Universidad de San Mart\u00edn de Porres Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francia","family":"Huaman\u2010Dianderas","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Biolog\u00eda Molecular Instituto de Investigaci\u00f3n Facultad de Medicina Humana Universidad de San Mart\u00edn de Porres Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisy","family":"Obispo","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Biolog\u00eda Molecular Instituto de Investigaci\u00f3n Facultad de Medicina Humana Universidad de San Mart\u00edn de Porres Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Biolog\u00eda Molecular Instituto de Investigaci\u00f3n Facultad de Medicina Humana Universidad de San Mart\u00edn de Porres Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor","family":"Barrenechea","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Biolog\u00eda Molecular Instituto de Investigaci\u00f3n Facultad de Medicina Humana Universidad de San Mart\u00edn de Porres Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rojas\u2010M\u00e1laga","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Biolog\u00eda Molecular Instituto de Investigaci\u00f3n Facultad de Medicina Humana Universidad de San Mart\u00edn de Porres Lima Peru"},{"name":"Laborat\u00f3rio de Gen\u00e9tica Molecular Servi\u00e7o de Gen\u00e9tica M\u00e9dica Hospital de Cl\u00ednicas de Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Estrada\u2010Cuzcano","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Biolog\u00eda Molecular Instituto de Investigaci\u00f3n Facultad de Medicina Humana Universidad de San Mart\u00edn de Porres Lima Peru"},{"name":"Paris\u2010Saclay Institute of Neuroscience, CERTO\u2010Retina France, CNRS Universit\u00e9 Paris\u2010Saclay Orsay 91405 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milana","family":"Trubnykova","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica y Errores Innatos del Metabolismo del Instituto Nacional de Salud del Ni\u00f1o Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Cornejo\u2010Olivas","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center Instituto Nacional de Ciencias Neurol\u00f3gicas Lima Peru"},{"name":"Center for Global Health Universidad Peruana Cayetano Heredia Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Marca","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center Instituto Nacional de Ciencias Neurol\u00f3gicas Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertha","family":"Gallardo","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica y Errores Innatos del Metabolismo del Instituto Nacional de Salud del Ni\u00f1o Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milagros","family":"Due\u00f1as\u2010Roque","sequence":"additional","affiliation":[{"name":"Hospital Nacional Edgardo Rebagliati Martins EsSalud Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Protzel","sequence":"additional","affiliation":[{"name":"Hospital Nacional Edgardo Rebagliati Martins EsSalud Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Casta\u00f1eda","sequence":"additional","affiliation":[{"name":"Hospital Nacional Cayetano Heredia Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0276-2557","authenticated-orcid":false,"given":"Hugo","family":"Abarca","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica y Errores Innatos del Metabolismo del Instituto Nacional de Salud del Ni\u00f1o Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Celis","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica Instituto de Salud del Ni\u00f1o San Borja Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"La Serna\u2010Infantes","sequence":"additional","affiliation":[{"name":"GenoCenter Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Fujita","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica y Biolog\u00eda Molecular Instituto de Investigaci\u00f3n Facultad de Medicina Humana Universidad de San Mart\u00edn de Porres Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103387"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20586"},{"key":"e_1_2_10_4_1","unstructured":"Abarca Barriga H. H.(2016).An\u00e1lisis retrospectivo de las caracter\u00edsticas cl\u00ednicas y moleculares de 40 pacientes con distrofia muscular de Duchenne y de Becker en el Hospital Nacional Guillermo Almenara Irigoyen 1997 \u2013 2007. M.Sc. thesis. Lima Per\u00fa: Universidad Nacional Mayor de San Marcos Facultad de Ciencias Biol\u00f3gicas Unidad de Posgrado 66 h."},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114482"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1003440"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-2-17"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22758"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70271-6"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.23.11141"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0108038"},{"key":"e_1_2_10_12_1","doi-asserted-by":"crossref","unstructured":"Coffa J. &van denBerg J.(2011).Analysis of MLPA data using novel software Coffalyser.NET by MRC \u2013 Holland. modern approaches to quality control Dr. Ahmed Badr Eldin (Ed.) ISBN: 978\u2010953\u2010307\u2010971\u20134 In Tech.","DOI":"10.5772\/21898"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200919"},{"key":"e_1_2_10_14_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Darras B. T.","year":"2000"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12975"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30617"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90039-U"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3460"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21114"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.20453\/rnp.v83i4.3893"},{"key":"e_1_2_10_22_1","volume-title":"Muscular dystrophy: methods and protocols","author":"Hoffman E. P.","year":"2001"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-150116"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0077940"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-004-0204-1"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0135189"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90504-6"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms16035334"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-0974-4"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20279"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(88)90113-9"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00131"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.7"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btx272"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_37_1","first-page":"8","article-title":"Implementaci\u00f3n de la Prueba del Multiplex PCR para el Gen DMD en Pacientes con sospecha de Distrofia Muscular de Duchenne\/Becker y la identificaci\u00f3n de una deleci\u00f3n de los exones 48\u201051","volume":"12","author":"Rojas D.","year":"2012","journal-title":"Horizonte M\u00e9dico"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.73"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.02.048"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.49"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.03.012"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-105"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00114"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1590\/1678-4685-GMB-2016-0019"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1759","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1759","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1759","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T11:48:40Z","timestamp":1693223320000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1759"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,29]]},"references-count":44,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2021,9]]}},"alternative-id":["10.1002\/mgg3.1759"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1759","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,29]]},"assertion":[{"value":"2021-03-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1759"}}