Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

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dc.contributor.author Lucía Mulas, Alejandro spa
dc.contributor.author Ruiz, Jonatan R. spa
dc.contributor.author Santalla Hernández, Alfredo spa
dc.contributor.author Nogales-Gadea, Gisela spa
dc.contributor.author Rubio, Juan Carlos spa
dc.contributor.author García-Consuegra, Inés spa
dc.contributor.author Cabello Sánchez, Ana Belén spa
dc.contributor.author Pérez Ruiz, Margarita spa
dc.contributor.author Teijeira, Susana spa
dc.contributor.author Vieitez, Irene spa
dc.contributor.author Navarro, Carmen spa
dc.contributor.author Arenas, Joaquín spa
dc.contributor.author Martín, Miguel Ángel spa
dc.contributor.author Andreu, Antoni L. spa
dc.date.accessioned 2013-11-27T17:26:30Z
dc.date.available 2013-11-27T17:26:30Z
dc.date.issued 2012 spa
dc.identifier.citation Lucía-Mulas, A., Ruiz, J. R., Santalla, A., Nogales-Gadea, G., Rubio, J. C., García-Consuegra, I., ..., & Andreu, A. L. (2012). Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. Journal of Neurology, Neurosurgery & Psychiatry, 83(3), 322-328. spa
dc.identifier.issn 00223050 spa
dc.identifier.uri http://hdl.handle.net/11268/787
dc.description.abstract Published genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics. A cross sectio spa
dc.language.iso eng spa
dc.title Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry spa
dc.type article spa
dc.description.impact 4.924 JCR (2012) Q1, 17/191 Clinical neurology, 17/135 Psychiatry, 4/198 Surgery spa
dc.identifier.doi 10.1136/jnnp-2011-301593 spa
dc.rights.accessRights openAccess en
dc.subject.unesco Genética humana spa
dc.description.filiation UEM spa
dc.peerreviewed Si spa

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