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http://hdl.handle.net/2445/191063| Title: | Very long time persistent hyperCKemia as the first manifestation of McLeod syndrome: a case report. |
| Author: | Torres, Viviana Painous Martí, Cèlia Santacruz, Pilar Sánchez, Aurora Sanz, Cristina Grau Junyent, Josep M. (Josep Maria) Muñoz, Esteban |
| Keywords: | Genètica humana Anomalies cromosòmiques Corea de Sydenham Creatina quinasa Hematies Human genetics Chromosome abnormalities Chorea Creatine kinase Erythrocytes |
| Issue Date: | 3-Jul-2022 |
| 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. |
| Note: | Reproducció del document |
| It is part of: | Movement Disorders Clinical Practice, 2022, vol. 9, num. 6, p. 821-824 |
| URI: | http://hdl.handle.net/2445/191063 |
| Related resource: | https://doi.org/10.1002/mdc3.13502 |
| ISSN: | 2330-1619 |
| 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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| 723882.pdf | 487.21 kB | Adobe PDF | View/Open |
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