Very long time persistent hyperCKemia as the first manifestation of McLeod syndrome: a case report.

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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.date.updated2022-11-21T16:11:00Z
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.identifier.idgrec723882
dc.identifier.issn2330-1619
dc.identifier.pmid35937484
dc.identifier.urihttps://hdl.handle.net/2445/191063
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.accessRightsinfo:eu-repo/semantics/openAccess
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

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