• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome.

作者信息

Fu Jun, Ma Ming-Ming, Pang Mi, Yang Liang, Li Gang, Song Jia, Zhang Jie-Wen

机构信息

Department of Neurology, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China.

出版信息

Chin Med J (Engl). 2019 Apr 5;132(7):865-867. doi: 10.1097/CM9.0000000000000151.

DOI:10.1097/CM9.0000000000000151
PMID:30897601
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6595846/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6663/6595846/20f123e4b72d/cm9-132-865-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6663/6595846/20f123e4b72d/cm9-132-865-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6663/6595846/20f123e4b72d/cm9-132-865-g001.jpg

相似文献

1
Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome.将线粒体天冬酰胺tRNA基因中m.5703G>A突变的表型从线粒体肌病扩展至伴有破碎红纤维综合征的肌阵挛性癫痫。
Chin Med J (Engl). 2019 Apr 5;132(7):865-867. doi: 10.1097/CM9.0000000000000151.
2
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?两种影响细胞器数量和蛋白质合成的新型致病性线粒体DNA突变。亮氨酸（UUR）转运RNA基因是一个病因热点吗？
J Clin Invest. 1993 Dec;92(6):2906-15. doi: 10.1172/JCI116913.
3
Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?MT-TN变异体m.5703G>A真的是导致伴有破碎红纤维综合征的肌阵挛性癫痫的病因吗？
Chin Med J (Engl). 2019 Jul 20;132(14):1752. doi: 10.1097/CM9.0000000000000337.
4
[Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation].[与线粒体DNA A8344G点突变相关的临床异质性]
Zhonghua Yi Xue Za Zhi. 2012 Oct 30;92(40):2835-8.
5
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.一个新的线粒体 T14709C 突变导致中国患者出现肌阵挛癫痫伴破碎红纤维综合征。
Chin Med J (Engl). 2018 Jul 5;131(13):1569-1574. doi: 10.4103/0366-6999.235120.
6
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.一种与线粒体DNA赖氨酸转运RNA基因新的点突变相关的肌阵挛性癫痫伴破碎红纤维/线粒体脑肌病伴乳酸血症和卒中样发作重叠综合征
Eur J Hum Genet. 1993;1(1):80-7. doi: 10.1159/000472390.
7
[Recent advances in genetics of epilepsy. Genetic of mitochondrial epilepsy].[癫痫遗传学的最新进展。线粒体癫痫的遗传学]
Rev Neurol. 2000;30(4):330-2.
8
MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).与罕见的线粒体tRNAile突变（m.4284 G>A）相关的类肌阵挛性癫痫伴破碎红纤维综合征（MERRF-like）表型
Neuropediatrics. 2011 Aug;42(4):148-51. doi: 10.1055/s-0031-1283167. Epub 2011 Jul 15.
9
Mitochondrial diseases.线粒体疾病
Curr Opin Neurol Neurosurg. 1992 Oct;5(5):622-32.
10
Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.扩展8344赖氨酸转运RNA线粒体DNA突变的表型。
Neurology. 1998 Nov;51(5):1447-50. doi: 10.1212/wnl.51.5.1447.

引用本文的文献

1
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.辅助生殖技术出生的儿童更常携带与低出生体重相关的线粒体基因型。
Nat Commun. 2024 Feb 9;15(1):1232. doi: 10.1038/s41467-024-45446-1.
2
Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies.异质性与个体线粒体基因库：生态研究中的特征及潜在作用
Biology (Basel). 2023 Nov 20;12(11):1452. doi: 10.3390/biology12111452.
3
Development of mitochondrial replacement therapy: A review.

本文引用的文献

1
Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation.左乙拉西坦和氯硝西泮联合治疗肌阵挛癫痫伴破碎红纤维综合征 m.8344A>G 突变的抗肌阵挛作用。
Chin Med J (Engl). 2018 Oct 20;131(20):2433-2438. doi: 10.4103/0366-6999.243568.
2
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.一个新的线粒体 T14709C 突变导致中国患者出现肌阵挛癫痫伴破碎红纤维综合征。
Chin Med J (Engl). 2018 Jul 5;131(13):1569-1574. doi: 10.4103/0366-6999.235120.
3
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
线粒体替代疗法的发展：综述
Heliyon. 2020 Sep 14;6(9):e04643. doi: 10.1016/j.heliyon.2020.e04643. eCollection 2020 Sep.
4
Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease.疑似与线粒体疾病相关的古老线粒体 DNA 致病性变异体。
PLoS One. 2020 Sep 24;15(9):e0233666. doi: 10.1371/journal.pone.0233666. eCollection 2020.
5
Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?MT-TN变异体m.5703G>A真的是导致伴有破碎红纤维综合征的肌阵挛性癫痫的病因吗？
Chin Med J (Engl). 2019 Jul 20;132(14):1752. doi: 10.1097/CM9.0000000000000337.
线粒体基因m.8344A>G“肌阵挛性癫痫伴破碎红纤维”（MERRF）突变的扩展表型谱：来自德国mitoNET注册中心的数据
J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19.
4
Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.
J Inherit Metab Dis. 2003;26(5):507-8. doi: 10.1023/a:1025133629685.
5
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?两种影响细胞器数量和蛋白质合成的新型致病性线粒体DNA突变。亮氨酸（UUR）转运RNA基因是一个病因热点吗？
J Clin Invest. 1993 Dec;92(6):2906-15. doi: 10.1172/JCI116913.