两姐妹患有多发性硬化症、板层状鱼鳞病、轻度β地中海贫血和因子VIII缺乏症。
Two sisters with multiple sclerosis, lamellar ichthyosis, beta thalassaemia minor and a deficiency of factor VIII.
作者信息
Capra R, Mattioli F, Kalman B, Marcianò N, Berenzi A, Benetti A
机构信息
Institute of Clinical Neurology, University of Brescia, Italy.
出版信息
J Neurol. 1993 Jun;240(6):336-8. doi: 10.1007/BF00839963.
PMID:8336172
Abstract
Two of four sisters have multiple sclerosis (MS), lamellar ichthyosis, beta thalassaemia minor and a quantitative deficit of factor VIII-von Willebrand complex. The mother and the other sisters have only beta thalassaemia minor. The association of MS and a cluster of genetically determined diseases is rare. Such families could offer a new approach to the investigation of the polygenetic background of MS.
摘要
四姐妹中有两人患有多发性硬化症（MS）、板层状鱼鳞病、轻度β地中海贫血以及VIII因子-血管性血友病因子复合物定量缺乏。母亲和其他姐妹仅患有轻度β地中海贫血。MS与一系列遗传疾病的关联较为罕见。这样的家族可为研究MS的多基因背景提供新方法。
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