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Muscular dystrophies.

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  • Additional Information
    • Affiliation:
      Pediatric Neurology Unit, Università Cattolica del Sacro Cuore Roma, Rome, Italy
      Nemo Clinical Centre, Fondazione Policlinico Universitario A Gemelli IRCCS, Rome, Italy
      Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
      Dubowitz Neuromuscular Centre, University College London, Great Ormond Street Institute of Child Health, London, UK
      National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK
    • Subject Terms:
    • Subject Terms:
    • Abstract:
      Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac and respiratory muscle involvement vary greatly. This development and advances in the field of supportive medicine have changed the standard of care, with an overall improvement in the clinical course, survival, and quality of life of affected individuals. The improved understanding of the pathogenesis of these diseases is being used for the development of novel therapies. In the most common form, Duchenne muscular dystrophy, a few personalised therapies have recently achieved conditional approval and many more are at advanced stages of clinical development. In this Seminar, we concentrate on clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments for this group of conditions.
    • Journal Subset:
      Biomedical; Editorial Board Reviewed; Europe; Expert Peer Reviewed; Peer Reviewed; UK & Ireland
    • Instrumentation:
      Clinical Decision Making in Nursing Scale (CDMNS) (Jenkins)
      Ferrans and Powers Quality of Life Index
      Longitudinal Interval Follow-Up Evaluation (LIFE)
    • ISSN:
      0099-5355
    • MEDLINE Info:
      PMID: NLM31789220 NLM UID: 2985213R
    • Publication Date:
      20191226
    • Publication Date:
      20200306
    • DOI:
      10.1016/S0140-6736(19)32910-1
    • Accession Number:
      140096007
  • Citations
    • ABNT:
      MERCURI, E.; BÖNNEMANN, C. G.; MUNTONI, F. Muscular dystrophies. Lancet, [s. l.], v. 394 North American Edition, n. 10213, p. 2025–2038, 2019. DOI 10.1016/S0140-6736(19)32910-1. Disponível em: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=140096007. Acesso em: 25 out. 2020.
    • AMA:
      Mercuri E, Bönnemann CG, Muntoni F. Muscular dystrophies. Lancet. 2019;394 North American Edition(10213):2025-2038. doi:10.1016/S0140-6736(19)32910-1
    • APA:
      Mercuri, E., Bönnemann, C. G., & Muntoni, F. (2019). Muscular dystrophies. Lancet, 394 North American Edition(10213), 2025–2038. https://doi.org/10.1016/S0140-6736(19)32910-1
    • Chicago/Turabian: Author-Date:
      Mercuri, Eugenio, Carsten G Bönnemann, and Francesco Muntoni. 2019. “Muscular Dystrophies.” Lancet 394 North American Edition (10213): 2025–38. doi:10.1016/S0140-6736(19)32910-1.
    • Harvard:
      Mercuri, E., Bönnemann, C. G. and Muntoni, F. (2019) ‘Muscular dystrophies’, Lancet, 394 North American Edition(10213), pp. 2025–2038. doi: 10.1016/S0140-6736(19)32910-1.
    • Harvard: Australian:
      Mercuri, E, Bönnemann, CG & Muntoni, F 2019, ‘Muscular dystrophies’, Lancet, vol. 394 North American Edition, no. 10213, pp. 2025–2038, viewed 25 October 2020, .
    • MLA:
      Mercuri, Eugenio, et al. “Muscular Dystrophies.” Lancet, vol. 394 North American Edition, no. 10213, Nov. 2019, pp. 2025–2038. EBSCOhost, doi:10.1016/S0140-6736(19)32910-1.
    • Chicago/Turabian: Humanities:
      Mercuri, Eugenio, Carsten G Bönnemann, and Francesco Muntoni. “Muscular Dystrophies.” Lancet 394 North American Edition, no. 10213 (November 30, 2019): 2025–38. doi:10.1016/S0140-6736(19)32910-1.
    • Vancouver/ICMJE:
      Mercuri E, Bönnemann CG, Muntoni F. Muscular dystrophies. Lancet [Internet]. 2019 Nov 30 [cited 2020 Oct 25];394 North American Edition(10213):2025–38. Available from: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=140096007