舞蹈病性棘红细胞增多症
Choreo-acanthocytosis.
作者信息
Bharucha E P, Bharucha N E
机构信息
Seth G.S. Medical College, Bombay, India.
出版信息
J Neurol Sci. 1989 Feb;89(2-3):135-9. doi: 10.1016/0022-510x(89)90014-2.
PMID:2926445
Abstract
This is the first report from India of a family of 4 sisters and 3 brothers in whom the proband showed a complete form of the choreo-acanthocytosis syndrome, whereas the 2 brothers who had died earlier of this disease had no examination of their blood. The apparently healthy members of this family also showed acanthocytosis, suggesting that this is a multisystem disorder affecting cell membranes.
摘要
这是来自印度的第一份报告，报道了一个由4个姐妹和3个兄弟组成的家庭，其中先证者表现出舞蹈病 - 棘红细胞增多症综合征的完整形式，而另外两名较早死于该病的兄弟未进行血液检查。这个家庭中看似健康的成员也表现出棘红细胞增多症，这表明这是一种影响细胞膜的多系统疾病。
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