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http://hdl.handle.net/2445/191063
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DC Field | Value | Language |
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dc.contributor.author | Torres, Viviana | - |
dc.contributor.author | Painous Martí, Cèlia | - |
dc.contributor.author | Santacruz, Pilar | - |
dc.contributor.author | Sánchez, Aurora | - |
dc.contributor.author | Sanz, Cristina | - |
dc.contributor.author | Grau Junyent, Josep M. (Josep Maria) | - |
dc.contributor.author | Muñoz, Esteban | - |
dc.date.accessioned | 2022-11-21T16:11:00Z | - |
dc.date.available | 2022-11-21T16:11:00Z | - |
dc.date.issued | 2022-07-03 | - |
dc.identifier.issn | 2330-1619 | - |
dc.identifier.uri | http://hdl.handle.net/2445/191063 | - |
dc.description.abstract | McLeod 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.extent | 4 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.relation.isformatof | Reproducció del document | - |
dc.relation.ispartof | Movement Disorders Clinical Practice, 2022, vol. 9, num. 6, p. 821-824 | - |
dc.relation.uri | https://doi.org/10.1002/mdc3.13502 | - |
dc.rights | cc by-nc-nd (c) Torres, Viviana et al., 2022 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Genètica humana | - |
dc.subject.classification | Anomalies cromosòmiques | - |
dc.subject.classification | Corea de Sydenham | - |
dc.subject.classification | Creatina quinasa | - |
dc.subject.classification | Hematies | - |
dc.subject.other | Human genetics | - |
dc.subject.other | Chromosome abnormalities | - |
dc.subject.other | Chorea | - |
dc.subject.other | Creatine kinase | - |
dc.subject.other | Erythrocytes | - |
dc.title | Very long time persistent hyperCKemia as the first manifestation of McLeod syndrome: a case report. | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.type | info:eu-repo/semantics/article | - |
dc.identifier.idgrec | 723882 | - |
dc.date.updated | 2022-11-21T16:11:00Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 35937484 | - |
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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File | Description | Size | Format | |
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723882.pdf | 487.21 kB | Adobe PDF | View/Open |
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