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Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

Authors

  • Alba Segarra-Casas Genetics Department, Institut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain Genetics and Microbiology Department, Universitat Autonoma de Barcelona, Bellaterra, Spain PubMed articlesGoogle scholar articles
  • Cristina Domínguez-González Neuromuscular Unit, Neurology Department, imas12 Research Institute, Hospital Universitario 12 de Octubre, Madrid, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Aurelio Hernández-Laín Neuropathology Unit, imas12 Research Institute, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Maria Teresa Sanchez-Calvin Clinical Genetics Unit, Genetics department, Hospital Universitario 12 de Octubre, Madrid, Spain UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Ana Camacho Paediatric Neurology Unit, Universidad Complutense de Madrid, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articlesGoogle scholar articles
  • Eloy Rivas Pathology Department, Instituto de Biomedicina de Sevilla, CSIC, Universidad de Sevilla, Hospital Universitario Virgen del Rocio, Sevilla, Spain PubMed articlesGoogle scholar articles
  • Andrea Campo-Barasoain UGC Pediatrics Department, Hospital Universitario Virgen Macarena, Sevilla, Spain PubMed articlesGoogle scholar articles
  • Marcos Madruga Neurology Department, Neurolinkia, Sevilla, Spain Hospital Viamed Santa Ángela de la Cruz, Sevilla, Spain PubMed articlesGoogle scholar articles
  • Carlos Ortez Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Daniel Natera-de Benito Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Andrés Nascimento Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Anna Codina Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Maria Jose Rodriguez Genetics Department, Institut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Pia Gallano Genetics Department, Institut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  • Lidia Gonzalez-Quereda Genetics Department, Institut d’Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Pia Gallano, Genetics Department, Hospital de Sant Pau, Universitat Autònoma de Barcelona, Institut d’Investigació Biomèdica Sant Pau IIB Sant Pau, Barcelona, Catalunya, Spain; pgallano{at}santpau.cat
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Citation

Segarra-Casas A, Domínguez-González C, Hernández-Laín A, et al
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Journal of Medical Genetics 2023;60:615-619.

Publication history

  • Received July 18, 2022
  • Accepted October 27, 2022
  • First published December 19, 2022.
Online issue publication 
May 22, 2023

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.