Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review

Abstract Background Primary familial brain calcification (PFBC) is a rare hereditary neurodegenerative disorder associated with the MYORG gene; however, the clinical and radiological characteristics of MYORG‐PFBC remain unclear. Methods We present relevant medical data obtained from a patient affect...

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Bibliographic Details
Main Authors: Tianxue Zhao, Shaokun Xu, Siyue Liu, Juan Xu, Xianfeng Zhang, Yuhong Zhan
Format: Article
Language:English
Published: Wiley 2023-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
brain calcification
case report
Fahr's disease
homozygous mutation
MYORG gene
Online Access:https://doi.org/10.1002/mgg3.2276

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