Article
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Journal of human genetics - 1 Feb 2011
Wang Jingmin, Shang Jing, Wu Ye, Gu Qiang, Xiong Hui, Ding Changhong, Wang Liwen, Gao Zhijie, Wu Xiru, Jiang Yuwu
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mutation screening were performed in 13 Chinese patients for the first time. A total of 10 MLC1...
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