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Report of a young patient with brain calcifications with a novel homozygous MYORG variant.

Gene - 5 Apr 2023

Sadok Sara H, Borges-Medeiros Rayssa L, de Oliveira Danyllo F, Zatz Mayana, de Oliveira João Ricardo Mendes

Abstract excerpt

Primary familial brain calcifications (PFBC) is characterized by bilateral and symmetrical deposition of inorganic phosphate, mainly in the basal ganglia, thalamus, cerebellum, and dentate nucleus. The symptoms resemble other neuropsychiatric conditions, such as Parkinsonism, dementia, migraine, and mood disorders. Pathogenic variants in six genes have been associated with this disorder, four linked to the...

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PMID: 36690225
DOI: 10.1016/j.gene.2023.147213

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