医学
舞蹈病
中国人口
儿科
弱点
基因检测
抗原
内科学
基因
疾病
遗传学
免疫学
外科
生物
基因型
作者
Bik Ling Man,Yuet Ping Yuen,Sze Fai Yip,S.-H. Ng
出处
期刊:Case Reports
[BMJ]
日期:2013-08-13
卷期号:: bcr2013200205-bcr2013200205
被引量:10
标识
DOI:10.1136/bcr-2013-200205
摘要
We report the first case of McLeod syndrome (MLS) in a 47-year-old Chinese man who presented with progressive limb weakness, chorea of feet, red blood cell acanthocytosis, absence of Kx red blood cell antigen and weak expression of Kell antigens. The diagnosis of MLS was confirmed by genetic testing showing a hemizygous mutation of XK gene. We review literature on neuroacanthocytosis in the Chinese population.
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