Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification - 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; et al. (Neuron (Cambridge, Mass.), 2018)
Keywords: Adult; Aged; Alleles; Animals; astrocyte; Astrocytes; Astrocytes - metabolism; Basal ganglia; brain calcification; Brain Diseases - genetics; Calcification; Calcinosis - genetics; Case-Control Studies; Female; Genes; Genomes; Genotype & phenotype; glycosidase; Glycoside Hydrolases - genetics; Humans; Loss of Function Mutation; Male; Mice; Mice, Knockout; Middle Aged; mRNA; Mutation; MYORG; Pedigree; PFBC; Recombination; RNA, Messenger - metabolism; Software; China; glycosidase; PFBC; brain calcification; astrocyte; MYORG