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

Tianxue Zhao,Shaokun Xu,Siyue Liu,Juan Xu,Xianfeng Zhang,Yuhong Zhan

Molecular genetics & genomic medicine（2023）

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摘要

All patients with primary brain calcification, particularly younger patients without a family history of the disease, should be screened for MYORG mutations.

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关键词

brain calcification, case report, Fahr's disease, homozygous mutation, MYORG gene

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