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McArdle disease mutations and polymorphisms

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dc.contributor.author Nogales-Gadea, Gisela
dc.contributor.author Brull, Astrid
dc.contributor.author Santalla Hernández, Alfredo
dc.contributor.author Andreu, Antoni L.
dc.contributor.author Arenas, Joaquín
dc.contributor.author Martín, M.
dc.contributor.author Lucía Mulas, Alejandro
dc.contributor.author Luna, Noemí de
dc.contributor.author Pinós, Tomás
dc.date.accessioned 2017-01-19T10:41:11Z
dc.date.available 2017-01-19T10:41:11Z
dc.date.issued 2016
dc.identifier.citation Nogales-Gadea, G., Brull, A., Santalla, A., Andreu, A., Arenas, J., Martín, M., ... & Pinós, T. (2016). McArdle disease mutations and polymorphisms. Neuromuscular Disorders, 26, S199. DOI: 10.1016/j.nmd.2016.06.408 spa
dc.identifier.issn 09608966
dc.identifier.issn 18732364
dc.identifier.uri http://hdl.handle.net/11268/6180
dc.description.abstract McArdle disease is an autosomal recessive disorder caused by inherited deficiency of the muscle isoform of glycogen phosphorylase (or ‘myophosphorylase’), which catalyzes the first step of glycogen catabolism, releasing glucose-1-phosphate from glycogen deposits. As a result, muscle metabolism is impaired, leading to different degrees of exercise intolerance. Patients range from asymptomatic to severely affected, including in some cases limitations in activities of daily living. This genetic disorder is caused by mutations in the PYGM gene. spa
dc.description.sponsorship SIN FINANCIACIÓN spa
dc.language.iso spa spa
dc.title McArdle disease mutations and polymorphisms spa
dc.type article spa
dc.description.impact 2.969 JCR (2016) Q2, 72/194 Clinical Neurology, 124/259 Neurosciences spa
dc.identifier.doi 10.1016/j.nmd.2016.06.408
dc.rights.accessRights openAccess spa
dc.subject.uem Glucógeno spa
dc.subject.uem Músculos spa
dc.subject.unesco Genética humana spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa


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