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SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.SRD5A3-CDG：一种超罕见先天性糖基化障碍亚型的新出现的表型特征
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2
Glycosylation in Axonal Guidance.轴突导向中的糖基化作用。
Int J Mol Sci. 2021 May 13;22(10):5143. doi: 10.3390/ijms22105143.
3
Loss of floor plate Netrin-1 impairs midline crossing of corticospinal axons and leads to mirror movements.基板缺失 Netrin-1 会损害皮质脊髓轴突的中线穿越，导致镜像运动。
Cell Rep. 2021 Jan 19;34(3):108654. doi: 10.1016/j.celrep.2020.108654.
4
Congenital Mirror Movements Associated With Brain Malformations.与脑畸形相关的先天性镜像运动
J Child Neurol. 2021 Jun;36(7):545-555. doi: 10.1177/0883073820984068. Epub 2021 Jan 8.
5
SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.SRD5A3缺陷型先天性糖基化障碍：临床实用基因卡片
Eur J Hum Genet. 2020 Sep;28(9):1297-1300. doi: 10.1038/s41431-020-0647-3. Epub 2020 May 18.
6
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.类固醇5α-还原酶3型先天性糖基化障碍中SRD5A3致病序列变异及眼部表现的综述，并报告一例详细的新病例。
Folia Biol (Praha). 2019;65(3):134-141. doi: 10.14712/fb2019065030134.
7
Hyperkinetic movement disorders in congenital disorders of glycosylation.先天性糖基化障碍中的多动障碍。
Eur J Neurol. 2019 Sep;26(9):1226-1234. doi: 10.1111/ene.14007. Epub 2019 Jun 21.
8
What is the role of the cerebellum in the pathophysiology of dystonia?小脑在肌张力障碍的病理生理学中起什么作用？
J Neurol. 2019 Jun;266(6):1549-1551. doi: 10.1007/s00415-019-09344-7.
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A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.一个近亲结婚的阿联酋家庭中出现的一种新的常染色体隐性综合征，其特征为眼裂、鱼鳞病、脑畸形和内分泌异常。
Am J Med Genet A. 2008 Apr 1;146A(7):813-9. doi: 10.1002/ajmg.a.32114.
10
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy.一例伴有刻板性肌张力障碍手部运动和视神经萎缩的先天性糖基化障碍-X型新病例。
J Inherit Metab Dis. 2002 May;25(2):126-30. doi: 10.1023/a:1015628810892.

Mirror Movements and Dystonia in -Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum.

作者信息

Holla Vikram V, Rangarajan Anush, Arunachal Gautham, Muthusamy Babylakshmi, Kamble Nitish, Yadav Ravi, Pal Pramod Kumar, Netravathi Manjunath

机构信息

Department of Neurology National Institute of Mental Health & Neurosciences Bengaluru Karnataka India.

Department of Human Genetics National Institute of Mental Health & Neurosciences Bengaluru Karnataka India.

出版信息

Mov Disord Clin Pract. 2022 Dec 14;10(3):510-513. doi: 10.1002/mdc3.13627. eCollection 2023 Mar.

DOI:10.1002/mdc3.13627
PMID:36949806
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10026265/
Abstract
摘要