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McArdle disease: a unique study model in sports medicine

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dc.contributor.author Santalla Hernández, Alfredo
dc.contributor.author Nogales-Gadea, Gisela
dc.contributor.author Ortenblad, Niels
dc.contributor.author Brull, Astrid
dc.contributor.author Luna, Noemí de
dc.contributor.author Pinós, Tomás
dc.contributor.author Lucía Mulas, Alejandro
dc.date.accessioned 2015-06-22T13:45:26Z
dc.date.available 2015-06-22T13:45:26Z
dc.date.issued 2014
dc.identifier.citation Santalla, A., Nogales-Gadea, G., Ørtenblad, N., Brull, A., Luna, N., Pinós, T., & Lucía-Mulas, A. (2014). McArdle disease: a unique study model in sports medicine. Sports Medicine, 44(11), 1531-1544. spa
dc.identifier.issn 01121642
dc.identifier.issn 11792035
dc.identifier.uri http://hdl.handle.net/11268/4024
dc.description.abstract McArdle disease is arguably the paradigm of exercise intolerance in humans. This disorder is caused by inherited deficiency of myophosphorylase, the enzyme isoform that initiates glycogen breakdown in skeletal muscles. Because patients are unable to obtain energy from their muscle glycogen stores, this disease provides an interesting model of study for exercise physiologists, allowing insight to be gained into the understanding of glycogen-dependent muscle functions. Of special interest in the field of muscle physiology and sports medicine are also some specific (if not unique) characteristics of this disorder, such as the so-called 'second wind' phenomenon, the frequent exercise-induced rhabdomyolysis and myoglobinuria episodes suffered by patients (with muscle damage also occurring under basal conditions), or the early appearance of fatigue and contractures, among others. In this article we review the main pathophysiological features of this disorder leading to exercise intolerance as well as the currently available therapeutic possibilities. spa
dc.description.sponsorship Proyecto PI12/00914 (Fondo de Investigaciones Sanitarias) spa
dc.language.iso eng spa
dc.subject.other Sports Medicine spa
dc.title McArdle disease: a unique study model in sports medicine spa
dc.type article spa
dc.description.impact 5.038 JCR (2014) Q1, 1/81 Sport sciences spa
dc.identifier.doi 10.1007/s40279-014-0223-5
dc.rights.accessRights openAccess spa
dc.subject.uem Enfermedades - McArdle spa
dc.subject.uem Ejercicio físico spa
dc.subject.uem Genética spa
dc.subject.unesco Ciencia spa
dc.subject.unesco Salud spa
dc.subject.unesco Medicina deportiva spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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