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

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

Abstract 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 re...

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Bibliographic Details
Main Authors: Shih-Ying Chen, Wei-Che Lin, Yung-Yee Chang, Tsu-Kung Lin, Min-Yu Lan
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Neurology
Subjects:
Primary familial brain calcification
Myogenesis regulating glycosidase
Dystonia
Parkinsonism
Cerebral hypoperfusion
Dopamine transporter
Online Access:http://link.springer.com/article/10.1186/s12883-020-01910-1

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http://link.springer.com/article/10.1186/s12883-020-01910-1

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