Article
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Molecular genetics and genomics : MGG - 1 Aug 2013
Jiao Hui, Manya Hiroshi, Wang Shuo, Zhang Yanzhi, Li Xiaoqing, Xiao Jiangxi, Yang Yanling, Kobayashi Kazuhiro, Toda Tatsushi, Endo Tamao, Wu Xiru, Xiong Hui
Abstract excerpt
Muscle-eye-brain (MEB) disease is a congenital muscular dystrophy (CMD) phenotype characterized by hypotonia at birth, brain structural abnormalities and ocular malformations. To date, few MEB cases have been reported in China where clinical recognition and genetic confirmatory testing on a research basis are recent developments. Here, we report the clinical and molecular genetics of three MEB disease patients....
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