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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 | Martín Casanueva, Miguel Ángel | |
dc.contributor.author | Arenas, Joaquín | |
dc.contributor.author | Lucía Mulas, Alejandro | |
dc.contributor.author | Luna, Noemí de | |
dc.contributor.author | Pinós, Tomás | |
dc.date.accessioned | 2015-05-27T11:06:45Z | |
dc.date.available | 2017-01-01T03:45:05Z | |
dc.date.issued | 2015 | |
dc.identifier.citation | Nogales‐Gadea, G., Brull, A., Santalla, A., Andreu, A. L., Arenas, J., Martín, M. A., ... & Pinós, T. (2015). Mcardle Disease: Update Of Reported Mutations And Polymorphisms In The Pygm Gene. Human Mutation. [Ahead of print] | spa |
dc.identifier.issn | 10597794 | |
dc.identifier.issn | 10981004 | |
dc.identifier.uri | http://hdl.handle.net/11268/3964 | |
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. The PYGM gene codifies myophosphoylase and to date 147 pathogenic mutations and 39 polymorphisms have been reported. Exon 1 and 17 are mutational hot-spots in PYGM and 50% of the described mutations are missense. | spa |
dc.description.sponsorship | Fondo de Investigaciones Sanitarias (FIS) PI12/00914 | spa |
dc.language.iso | eng | spa |
dc.subject.other | McArdle disease | spa |
dc.title | Mcardle disease: Update of reported mutations and polymorphisms in the Pygm gene | spa |
dc.type | article | spa |
dc.date.embargoEndDate | 2017-01-01 | spa |
dc.date.embargoEndDate | 2016-12-31 | spa |
dc.description.impact | 5.089 JCR (2015) Q1, 23/165 Genetics & heredity | spa |
dc.identifier.doi | 10.1002/humu.22806 | |
dc.rights.accessRights | closedAccess | spa |
dc.subject.uem | Genética | spa |
dc.subject.uem | Salud | spa |
dc.subject.uem | Ejercicio | spa |
dc.subject.unesco | Ciencia | spa |
dc.description.filiation | UEM | spa |
dc.peerreviewed | Si | spa |