{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T06:26:12Z","timestamp":1778739972100,"version":"3.51.4"},"reference-count":20,"publisher":"BMJ","issue":"6","license":[{"start":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T00:00:00Z","timestamp":1671408000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI18\/01585"],"award-info":[{"award-number":["PI18\/01585"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["FPU20\/06692"],"award-info":[{"award-number":["FPU20\/06692"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2022,10,27]]},"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>RNA was extracted from seven muscle biopsy samples of patients with genetically undiagnosed DMD\/BMD after routine genetic diagnosis. RT-PCR of the <jats:italic>DMD<\/jats:italic> gene was performed to detect the presence of alternative transcripts. Droplet digital PCR and whole-genome sequencing were also performed in some patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified an alteration in the mRNA level in all the patients. We detected three pseudoexons in <jats:italic>DMD<\/jats:italic> caused by deep intronic variants, two of them not previously reported. We also identified a chromosomal rearrangement between Xp21.2 and 8p22. Furthermore, we detected three exon skipping events with unclear pathogenicity.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>These findings indicate that mRNA analysis of the <jats:italic>DMD<\/jats:italic> gene is a valuable tool to reach a precise genetic diagnosis in patients with a clinical and anatomopathological suspicion of dystrophinopathy that remain genetically undiagnosed after routine genetic testing.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108828","type":"journal-article","created":{"date-parts":[[2022,12,19]],"date-time":"2022-12-19T13:20:12Z","timestamp":1671456012000},"page":"615-619","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5185-5031","authenticated-orcid":false,"given":"Alba","family":"Segarra-Casas","sequence":"first","affiliation":[{"name":"Genetics Department, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain"},{"name":"Genetics and Microbiology Department, Universitat Autonoma de Barcelona, Bellaterra, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5151-988X","authenticated-orcid":false,"given":"Cristina","family":"Dom\u00ednguez-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Neurology Department, imas12 Research Institute, Hospital Universitario 12 de Octubre, Madrid, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurelio","family":"Hern\u00e1ndez-La\u00edn","sequence":"additional","affiliation":[{"name":"Neuropathology Unit, imas12 Research Institute, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Sanchez-Calvin","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Genetics department, Hospital Universitario 12 de Octubre, Madrid, Spain"},{"name":"UDISGEN (Unidad de Dismorfolog\u00eda y Gen\u00e9tica), Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Camacho","sequence":"additional","affiliation":[{"name":"Paediatric Neurology Unit, Universidad Complutense de Madrid, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eloy","family":"Rivas","sequence":"additional","affiliation":[{"name":"Pathology Department, Instituto de Biomedicina de Sevilla, CSIC, Universidad de Sevilla, Hospital Universitario Virgen del Rocio, Sevilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Campo-Barasoain","sequence":"additional","affiliation":[{"name":"UGC Pediatrics Department, Hospital Universitario Virgen Macarena, Sevilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos","family":"Madruga","sequence":"additional","affiliation":[{"name":"Neurology Department, Neurolinkia, Sevilla, Spain"},{"name":"Hospital Viamed Santa \u00c1ngela de la Cruz, Sevilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Ortez","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, 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Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Codina","sequence":"additional","affiliation":[{"name":"Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de D\u00e9u, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Jose","family":"Rodriguez","sequence":"additional","affiliation":[{"name":"Genetics Department, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pia","family":"Gallano","sequence":"additional","affiliation":[{"name":"Genetics Department, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain"},{"name":"Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, 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