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

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 un...

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Detalles Bibliográficos
Autores principales: Chen, Shih-Ying, Lin, Wei-Che, Chang, Yung-Yee, Lin, Tsu-Kung, Lan, Min-Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460774/
https://www.ncbi.nlm.nih.gov/pubmed/32873236
http://dx.doi.org/10.1186/s12883-020-01910-1

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