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亨廷顿舞蹈病周围组织的研究现状

The current state of research with peripheral tissues in Huntington disease.

作者信息

Beverstock G C

出版信息

Hum Genet. 1984;66(2-3):115-31. doi: 10.1007/BF00286586.

Abstract

Huntington disease is a neurological autosomal dominant disease of unknown origin and the search for a suitable diagnostic marker has been extended to the peripheral tissues. It is generally believed that a membrane defect exists in Huntington disease although the evidence is controversial. It is the aim of this review to examine the validity of these claims for each of the peripheral tissues and techniques involved, and it is not intended to include all other aspects of research into Huntington disease.

摘要

亨廷顿舞蹈症是一种病因不明的常染色体显性神经疾病,寻找合适的诊断标志物的研究已扩展到外周组织。尽管证据存在争议,但人们普遍认为亨廷顿舞蹈症存在膜缺陷。本综述的目的是检验这些针对所涉及的每种外周组织和技术的说法的有效性,且不打算涵盖亨廷顿舞蹈症研究的所有其他方面。

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