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.issued
2022-11-21T16:11:00Z
dc.date.issued
2022-11-21T16:11:00Z
dc.date.issued
2022-07-03
dc.date.issued
2022-11-21T16:11:00Z
dc.identifier
https://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
application/pdf
dc.format
application/pdf
dc.relation
Reproducció del document
dc.relation
Movement Disorders Clinical Practice, 2022, vol. 9, num. 6, p. 821-824
dc.relation
https://doi.org/10.1002/mdc3.13502
dc.rights
cc by-nc-nd (c) Torres, Viviana et al., 2022
dc.rights
http://creativecommons.org/licenses/by-nc-nd/3.0/es/
dc.rights
info:eu-repo/semantics/openAccess
dc.source
Articles publicats en revistes (Medicina)
dc.subject
Genètica humana
dc.subject
Anomalies cromosòmiques
dc.subject
Corea de Sydenham
dc.subject
Creatina quinasa
dc.subject
Human genetics
dc.subject
Chromosome abnormalities
dc.subject
Creatine kinase
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
