耶路撒冷型远端遗传性运动神经元病
Distal hereditary motor neuronopathy of the Jerash type.
作者信息
Middleton L T, Christodoulou K, Mubaidin A, Zamba E, Tsingis M, Kyriacou K, Abu-Sheikh S, Kyriakides T, Neocleous V, Georgiou D M, el-Khateeb M, al-Qudah A, Horany K
机构信息
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
出版信息
Ann N Y Acad Sci. 1999 Sep 14;883:65-8.
PMID:10586232
Abstract
A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of knee hyperreflexia form distinctive clinical features. We have mapped the HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.
摘要
报道了一种新型常染色体隐性遗传性远端运动神经元病（远端HMN）。该疾病早期存在锥体束征且膝反射亢进持续存在，形成了独特的临床特征。我们已将HMN-J基因定位到9号染色体p21.1-p12区域，估计区间为1.2兆碱基对。
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