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Article

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Neuron - 27 Jun 2018

Yao Xiang-Ping, Cheng Xuewen, Wang Chong, Zhao Miao, Guo Xin-Xin, Su Hui-Zhen, Lai Lu-Lu, Zou Xiao-Huan, Chen Xue-Jiao, Zhao Yuying, Dong En-Lin, Lu Ying-Qian, Wu Shuang, Li Xiaojuan, Fan Gaofeng, Yu Hongjie, Xu Jianfeng, Wang Ning, Xiong Zhi-Qi, Chen Wan-Jin

Abstract excerpt

Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and other brain regions. The genetic basis of this disorder remains unknown in a significant portion of familial cases. Here, we reported a recessive causal gene, MYORG, for PFBC. Compound heterozygous or homozygous mutations of MYORG co-segregated completely with PFBC...

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Identifiers

PMID: 29910000
DOI: 10.1016/j.neuron.2018.05.037

Genes

MYORG

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