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A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.

作者信息

Li Xun-hua, Song Chun, Chen Su-qin, Zhou Yan, Guo Hui, Zhou Chun-long, Yang Zhi-yun, Liang Yin-xing, Wang Yi-ming

机构信息

Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China.

出版信息

Chin Med J (Engl). 2007 May 5;120(9):834-7.

PMID:17531128
Abstract
摘要

相似文献

1
A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.一个中国汉族家系中具有遗传性痉挛性截瘫新足部表型的SPG3A突变
Chin Med J (Engl). 2007 May 5;120(9):834-7.
2
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.常染色体显性遗传性痉挛性截瘫家系中Atlastin基因(SPG3A)的新突变以及与SPG3A基因座相关的迟发性遗传性痉挛性截瘫的证据。
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Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.Atlastin1突变在早发型常染色体显性遗传性痉挛性截瘫中很常见。
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Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.与轴索性神经病相关的遗传性痉挛性截瘫:一个大家族中的SPG3A新突变
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Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.一种新的SPG3A新发突变导致的遗传性痉挛性截瘫和轴索性运动神经病
Brain Dev. 2010 Aug;32(7):592-4. doi: 10.1016/j.braindev.2009.08.003. Epub 2009 Sep 6.
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SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.SPG3A是10岁前发病的遗传性痉挛性截瘫最常见的病因。
Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e.
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Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.SPG3A基因突变导致常染色体显性遗传性痉挛性截瘫的进一步证据。
Ann Neurol. 2002 Jun;51(6):794-5. doi: 10.1002/ana.10185.
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Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.遗传性痉挛性截瘫:一个中国家系中SPG3A基因突变的鉴定
Hong Kong Med J. 2009 Aug;15(4):304-7.
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De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.以脑性瘫痪为表现的新型SPG3A/atlastin突变的新发情况。
Arch Neurol. 2006 Mar;63(3):445-7. doi: 10.1001/archneur.63.3.445.
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Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.一个非裔美国家庭中SPG3A基因的新型突变与早发性遗传性痉挛性截瘫相关
Arch Neurol. 2004 Oct;61(10):1600-3. doi: 10.1001/archneur.61.10.1600.

引用本文的文献

1
Novel mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature.一个中国遗传性痉挛性截瘫家族中的新型突变:病例报告及文献复习
World J Clin Cases. 2019 Jun 6;7(11):1358-1366. doi: 10.12998/wjcc.v7.i11.1358.
2
Clinical features and genotype-phenotype correlation analysis in patients with mutations: A literature reanalysis.突变患者的临床特征及基因型-表型相关性分析:一项文献再分析
Transl Neurodegener. 2017 Apr 4;6:9. doi: 10.1186/s40035-017-0079-3. eCollection 2017.