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- W2808209916 abstract "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 in six families, with logarithm of odds (LOD) score of 4.91 at the zero recombination fraction. In mice, Myorg mRNA was expressed specifically in S100β-positive astrocytes, and knockout of Myorg induced the formation of brain calcification at 9 months of age. Our findings provide strong evidence that loss-of-function mutations of MYORG cause brain calcification in humans and mice." @default.
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- W2808209916 date "2018-06-01" @default.
- W2808209916 modified "2023-10-18" @default.
- W2808209916 title "Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification" @default.
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- W2808209916 doi "https://doi.org/10.1016/j.neuron.2018.05.037" @default.
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