与原发性家族性脑钙化相关的新型变异体 - Suppr

Novel Variant Linked to Primary Familial Brain Calcification.

作者信息

Cristea Andreea Catalina, Pérez-Castrillón José Luís, Usategui-Martin Ricardo

机构信息

Department of Cardiology, Rio Hortega University Hospital, Valladolid, Spain.

Dermatology and Toxicology, University of Valladolid, Valladolid, Spain.

出版信息

J Clin Neurol. 2024 Nov;20(6):634-636. doi: 10.3988/jcn.2024.0252.

DOI:10.3988/jcn.2024.0252

PMID:39505318

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11543392/

Abstract

摘要

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Novel Variant Linked to Primary Familial Brain Calcification.

J Clin Neurol. 2024 Nov;20(6):634-636. doi: 10.3988/jcn.2024.0252.

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本文引用的文献

A novel mutation causes primary familial brain calcification with migraine: Case report and literature review.

Front Neurol. 2023 Feb 2;14:1110227. doi: 10.3389/fneur.2023.1110227. eCollection 2023.

The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity.

PLoS Biol. 2022 Sep 21;20(9):e3001764. doi: 10.1371/journal.pbio.3001764. eCollection 2022 Sep.

Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.

Neurol Sci. 2019 Nov;40(11):2251-2263. doi: 10.1007/s10072-019-03998-x. Epub 2019 Jul 2.

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.

Neuron. 2018 Jun 27;98(6):1116-1123.e5. doi: 10.1016/j.neuron.2018.05.037. Epub 2018 Jun 14.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Familial idiopathic basal ganglia calcification (Fahr`s disease).

Neurosciences (Riyadh). 2014 Jul;19(3):171-7.

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Novel Variant Linked to Primary Familial Brain Calcification.

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