Article
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.
PloS one - 1 Jan 2016
Cao Binbin, Yan Huifang, Guo Mangmang, Xie Han, Wu Ye, Gu Qiang, Xiao Jiangxi, Shang Jing, Yang Yanling, Xiong Hui, Niu Zhengping, Wu Xiru, Jiang Yuwu, Wang Jingmin
Abstract excerpt
OBJECTIVE: Megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare neurological deterioration disease. We aimed to clarify clinical and genetic features of Chinese MLC patients. METHODS: Clinical information and peripheral venous blood of 20 patients and their families were collected, Sanger-sequencing and Multiple Ligation-dependent Probe Amplification were performed to make...
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