Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification

Primary familial brain calcification (PFBC) is a progressive neurological disorder manifesting as bilateral brain calcifications in CT scan with symptoms as parkinsonism, dystonia, ataxia, psychiatric symptoms, etc. Recently, pathogenic variants in MYORG have been linked to autosomal recessive PFBC....

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Detalles Bibliográficos
Autores principales: Zeng, Yi-Heng, Lin, Bi-Wei, Su, Hui-Zhen, Guo, Xin-Xin, Li, Yun-Lu, Lai, Lu-Lu, Chen, Wan-Jin, Zhao, Miao, Yao, Xiang-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570371/
https://www.ncbi.nlm.nih.gov/pubmed/34745211
http://dx.doi.org/10.3389/fgene.2021.732389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8570371/
https://www.ncbi.nlm.nih.gov/pubmed/34745211
http://dx.doi.org/10.3389/fgene.2021.732389

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