The first report of a Chinese family with McLeod syndrome. (3rd June 2014)

• Record Type: Journal Article
• Authors: Man, Bik Ling; Yuen, Yuet Ping; Fu, Yat Pang
• Is Part Of: BMJ case reports. Volume 2014
• Publication Date: 2014-06-03
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2013-202785
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : We report the first case of a Chinese family with McLeod syndrome (MLS). The two affected brothers show significant phenotypic heterogeneity. The index case has peripheral acanthocytosis, choreoathetosis of his feet, a slowly progressive neuropathy and myopathy, and an elevated serum creatine kinase (CK) level. His elder brother has more prominent chorea of the shoulders, epilepsy, a rapidly progressive neuropathy and normal serum CK. The diagnosis of MLS was confirmed by a genetic test which showed a hemizygous frameshift mutation in the XK gene.