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本文引用的文献

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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.由双等位基因致病变异引起的POLR3相关脑白质营养不良的临床谱
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2
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.RNA 聚合酶 III 相关脑白质营养不良伴严重肌阵挛和肌张力障碍的新型 POLR1C 突变。
Mol Genet Genomic Med. 2019 Sep;7(9):e914. doi: 10.1002/mgg3.914. Epub 2019 Jul 31.
3
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.POLR1C基因的隐性突变通过损害RNA聚合酶III的生物合成导致脑白质营养不良。
Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.
4
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.与聚合酶III相关的脑白质营养不良中的脑磁共振成像（MRI）模式识别
J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7.
5
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.编码 RNA 聚合酶 I 和 III 亚基的基因突变会导致特雷彻·柯林斯综合征。
Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5.
6
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.脱髓鞘疾病中的磁共振成像模式识别
Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257.

Novel Mutation in the Gene Causing Hypomyelinating Leukodystrophy in an Adult.

作者信息

Yadav Nishtha, Saini Jitender, Nagappa Madhu

机构信息

Department of Radiology (NY), Super Speciality Hospital, NSCB Medical College, Jabalpur; Department of Neuroimaging and Interventional Radiology (JS), and Department of Neurology (MN), National Institute of Mental Health and Neurosciences, Bengaluru, India.

出版信息

Neurol Clin Pract. 2021 Jun;11(3):e367-e369. doi: 10.1212/CPJ.0000000000001002.

DOI:10.1212/CPJ.0000000000001002
PMID:34484918
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8382358/
Abstract
摘要