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Article

Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.

BMC neurology - 1 Sept 2020

Chen Shih-Ying, Lin Wei-Che, Chang Yung-Yee, Lin Tsu-Kung, Lan Min-Yu

Abstract excerpt

BACKGROUND: Primary familial brain calcification (PFBC) is a rare inherited disease characterized by multiple calcified foci in the brain parenchyma. MYORG is the first gene found to be associated with autosomal recessive PFBC. The precise pathogenic mechanism of neurodegeneration in PFBC remains unclear. The clinical phenotypes of PFBC are variable, and there is no clear correlation between clinical...

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Identifiers

PMID: 32873236
DOI: 10.1186/s12883-020-01910-1
PMCID: PMC7460774

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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