Article
[Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2007
Liu Ling, Liu Yun-qiang, Xu Yan-ming, Xue Rui, Tang Yu-feng, Zhao Li-li, Liu Yong-hong, Zhou Dong
Abstract excerpt
OBJECTIVE: To investigate the clinical characteristics and analyze spastin gene mutation on a kindred with hereditary spastic paraplegia (HSP). METHODS: All family members were studied through clinical examinations. The proband and another two patients in this kindred were subjected to electromyography (EMG) examinations. The proband was subjected to thoracic MRI examination too. Mutation analysis of spastin gene...
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