新型白质紊乱的MR定义

Rivista Di Neuroradiologia Pub Date : 2009-09-01 DOI:10.1177/19714009090220S112

M. Knaap

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引用次数: 0

摘要

阀杆。小脑白质通常有轻度异常信号强度，无肿胀。临床表现的特点是在生命的第一年出现大头畸形。运动损伤延迟发作，以小脑性共济失调为主。本病为常染色体隐性遗传。我们的遗传连锁研究鉴定出了该疾病的一个基因:MLC1 4

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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MR Definition of Novel White Matter Disorders

stem. The cerebellar white matter usually has a mildly abnormal signal intensity without swelling. The clini- cal picture is characterized by macrocephaly within the first year of life. There is a delayed onset of motor dete- rioration, dominated by cerebellar ataxia. The disease has an autosomal recessive mode of inheritance. Our genetic linkage study resulted in the identification of a gene for the disease: MLC1 4

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Rivista Di Neuroradiologia

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