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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/191063
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dc.contributor.authorTorres, Viviana-
dc.contributor.authorPainous Martí, Cèlia-
dc.contributor.authorSantacruz, Pilar-
dc.contributor.authorSánchez, Aurora-
dc.contributor.authorSanz, Cristina-
dc.contributor.authorGrau Junyent, Josep M. (Josep Maria)-
dc.contributor.authorMuñoz, Esteban-
dc.date.accessioned2022-11-21T16:11:00Z-
dc.date.available2022-11-21T16:11:00Z-
dc.date.issued2022-07-03-
dc.identifier.issn2330-1619-
dc.identifier.urihttps://hdl.handle.net/2445/191063-
dc.description.abstractMcLeod syndrome (MLS) is a very rare genetic X-linked condition due to XK gene mutations and characterized by the development of chorea, psychiatric and cognitive impairment, seizures, cardiomyopathy, muscular involvement and the presence of acanthocytes. We present the case of a patient with very long lasting mild myalgia and elevated creatine kinase (CK) who developed lateonset chorea and was finally diagnosed with MLS.-
dc.format.extent4 p.-
dc.format.mimetypeapplication/pdf-
dc.language.isoeng-
dc.relation.isformatofReproducció del document-
dc.relation.ispartofMovement Disorders Clinical Practice, 2022, vol. 9, num. 6, p. 821-824-
dc.relation.urihttps://doi.org/10.1002/mdc3.13502-
dc.rightscc by-nc-nd (c) Torres, Viviana et al., 2022-
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es/*
dc.sourceArticles publicats en revistes (Medicina)-
dc.subject.classificationGenètica humana-
dc.subject.classificationAnomalies cromosòmiques-
dc.subject.classificationCorea de Sydenham-
dc.subject.classificationCreatina quinasa-
dc.subject.classificationHematies-
dc.subject.otherHuman genetics-
dc.subject.otherChromosome abnormalities-
dc.subject.otherChorea-
dc.subject.otherCreatine kinase-
dc.subject.otherErythrocytes-
dc.titleVery long time persistent hyperCKemia as the first manifestation of McLeod syndrome: a case report.-
dc.typeinfo:eu-repo/semantics/publishedVersion-
dc.typeinfo:eu-repo/semantics/article-
dc.identifier.idgrec723882-
dc.date.updated2022-11-21T16:11:00Z-
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess-
dc.identifier.pmid35937484-
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Medicina)

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