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Transient recurrent white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report

机译：中国新发现的间隙连接蛋白β1基因突变的x连锁性Charcot-Marie-tooth病的暂时性复发性白质病变：病例报告

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摘要

BackgroundTransient white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1.

机译：背景在1型X连锁Charcot-Marie-Tooth疾病中，很少有短暂性白质病变的报道。

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期刊名称 BMC Neurology
作者
Yuan Zhao; Yanchen Xie; Xiaoquan Zhu; Huigang Wang; Yao Li; Jimei Li;
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作者单位

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年(卷),期 2014(14),-1
年度 2014
页码 156
总页数 5
原文格式 PDF
正文语种
中图分类神经病学;
关键词
Charcot-Marie-Tooth disease White Matter Gap junction protein beta l Connexins Mutation;

机译：Charcot-Marie-Tooth病;白色物质;间隙连接蛋白β1;连接蛋白;突变;

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专利

1. Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report [J] . Yuan Zhao, Yanchen Xie, Xiaoquan Zhu, BMC Neurology . 2014,第1期

机译：中国新发现的间隙连接蛋白β1基因突变的x连锁性Charcot-Marie-tooth病的暂时性，复发性白质病变：病例报告
2. NOVEL FAMILIAL PATHOGENIC MUTATION IN GAP JUNCTION PROTEIN, BETA-1 GENE (GJB1) ASSOCIATED WITH TRANSIENT NEUROLOGICAL DEFICITS IN A PATIENT WITH X-LINKED CHARCOT-MARIE-TOOTH DISEASE [J] . Appu Merveen, Mar Soe Muscle and Nerve . 2014,第6期

机译：X连锁性炭疽病患者中间隙连接蛋白BETA-1基因（GJB1）的新型家族性突变与短暂性神经系统疾病相关
3. Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients [J] . Bo Sun, Zhao-Hui Chen, Li Ling, 中华医学杂志（英文版） . 2016,第009期

机译：中国人X连锁炭–玛丽齿病的间隙连接蛋白β1突变与基因型与表型的相关性分析
4. Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure [C] . Mitsuhiro Kamisago, Joachim P. Schmitt, Dennis McNamara, Symposium on heart failure: Molecules, mechanisms and therapeutic targets . 2006

机译：Sarcomere蛋白质基因突变和遗传性心脏病：β-心肌肌苷重链突变导致心内膜肌肌瘤和心力衰竭
5. Familial Alzheimer's disease mutations decrease gamma-secretase processing of beta amyloid precursor protein. [D] . Wiley, Jesse Carey. 2003

机译：家族性阿尔茨海默氏病突变减少了β淀粉样蛋白前体蛋白的γ-分泌酶加工。
6. Mutation Analysis of Gap Junction Protein Beta 1 and Genotype–Phenotype Correlation in X-linked Charcot–Marie–Tooth Disease in Chinese Patients [O] . Bo Sun, Zhao-Hui Chen, Li Ling, 2016

机译：X连锁性夏科-玛丽-牙病中国患者间隙连接蛋白β1的突变分析及基因型与表型的相关性
7. Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report [O] . Yuan Zhao, Yanchen Xie, Xiaoquan Zhu, 2014

机译：中国新发现的间隙连接蛋白β1基因突变的x连锁性Charcot-Marie-tooth病的暂时性，复发性白质病变：病例报告

Transient recurrent white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report

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