Files

723882.pdf (487.21 KB)

Document type

Article

Version

Published version

Publication date

2022-07-03

Publication license

cc by-nc-nd (c) Torres, Viviana et al., 2022
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/191063

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

Journal Title

Authors

Director/Tutor

Additional contribution

Journal ISSN

Volume Title

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.

Related resource

https://doi.org/10.1002/mdc3.13502

Subject

Genètica humana, Anomalies cromosòmiques, Corea de Sydenham, Creatina quinasa, Hematies

Subject (English)

Human genetics, Chromosome abnormalities, Chorea, Creatine kinase, Erythrocytes

Citation

Collections

Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citation

TORRES, Viviana, et al. Very long time persistent hyperCKemia as the first manifestation of McLeod syndrome: a case report. Movement Disorders Clinical Practice. 2022. Vol. 9, num. 6, pags. 821-824. ISSN 2330-1619. [consulted: 11 of October of 2026]. Available at: https://hdl.handle.net/2445/191063

Export metadata

JSON - METS

Share record