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MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes.

作者信息

Malaquias Maria João, Martins Ricardo Cruz, Oliveira Jorge, Freixo João Parente, Magalhães Marina

机构信息

Neurology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.

Neurorradiology Department, Centro Hospitalar Universitário do Porto, Porto, Portugal.

出版信息

Clin Genet. 2020 Nov;98(5):517-519. doi: 10.1111/cge.13836. Epub 2020 Sep 8.

DOI:10.1111/cge.13836
PMID:32896900
Abstract
摘要

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MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes.一个以中风样发作为表现的原发性家族性脑钙化家族中的MYORG基因致病变异。
Clin Genet. 2020 Nov;98(5):517-519. doi: 10.1111/cge.13836. Epub 2020 Sep 8.
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First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature.首例由 MYORG 基因上的新型变异引起的原发性家族性脑钙化的儿科病例，并对文献进行回顾。
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Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.原发性家族性脑钙化症一家系中 MYORG 基因新的纯合突变
Neurogenetics. 2019 May;20(2):99-102. doi: 10.1007/s10048-019-00571-8. Epub 2019 Mar 21.

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Fahr's disease presenting with ischemic stroke in young adult: a case report of rare disease with unique presentation.Fahr病在年轻成年人中表现为缺血性卒中：一例具有独特表现的罕见病病例报告。
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Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).伊朗原发性家族性脑钙化（PFBC）患者中MYORG的突变谱及临床特征
Neurol Sci. 2025 Mar 22. doi: 10.1007/s10072-025-08105-x.
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Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
Fahr 病与 MYORG 变异体中的新型突变相关，表现为阵发性肢体僵硬和构音障碍：病例报告及文献复习。
Mol Genet Genomic Med. 2023 Dec;11(12):e2276. doi: 10.1002/mgg3.2276. Epub 2023 Sep 7.
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Ischemic stroke in a patient with Fahr's disease carrying biallelic mutations in the gene.携带有 基因双等位基因突变的 Fahr 病患者发生缺血性脑卒中。
Neurosciences (Riyadh). 2022 Oct;27(4):270-274. doi: 10.17712/nsj.2022.4.20220047.