Article
MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2020
Chen You, Cen Zhidong, Chen Xinhui, Wang Haotian, Chen Si, Yang Dehao, Fu Feng, Wang Lebo, Liu Peng, Wu Hongwei, Zheng Xiaosheng, Xie Fei, Ouyang Zhiyuan, Zhang Yun, Zhou Yongji, Huang Xuerong, Wang Feng, Huang Guangsu, An Hongwei, Liang Yubing, Hong Weijun, Wang Anli, Huang Shuangling, Chen Wenhai, Yin Lili, Yang Yan, Huang Huayun, Zeng Ruxin, Zhao Na, Jiang Biao, Zhang Baorong, Luo Wei
Abstract excerpt
BACKGROUND: Biallelic mutations in the MYORG gene were first identified as the cause of recessively inherited primary familial brain calcification. Interestingly, some heterozygous carriers also exhibited brain calcifications. OBJECTIVES: To further investigate the role of single heterozygous MYORG mutations in the development of brain calcifications. METHODS: A nation-wide cohort of Chinese primary familial...
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