Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

Yao, XP; Cheng, XW; Wang, C; Zhao, M; Guo, XX; Su, HZ; Lai, LL; Zou, XH; Chen, XJ; Zhao, YY; Dong, EL; Lu, YQ; Wu, S; Li, XJ; Fan, GF; Yu, HJ; Xu, JF; Wang, N; Xiong, ZQ; Chen, WJ

Wang, N; Chen, WJ (reprint author), Fujian Med Univ, Affiliated Hosp 1, Dept Neurol, Fuzhou 350005, Fujian, Peoples R China.; Wang, N; Chen, WJ (reprint author), Fujian Med Univ, Affiliated Hosp 1, Inst Neurol, Fuzhou 350005, Fujian, Peoples R China.; Xio

NEURON, 2018; 98 (6): 1116

Abstract

Primary familial brain calcification (PFBC) is a genetically heterogeneous disorder characterized by bilateral calcifications in the basal ganglia and......

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