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。 - Suppr

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

相似文献

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

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

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

J Clin Invest. 1993 Dec;92(6):2906-15. doi: 10.1172/JCI116913.

Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?

Chin Med J (Engl). 2019 Jul 20;132(14):1752. doi: 10.1097/CM9.0000000000000337.

[Clinical heterogeneity associated with mitochondrial DNA A8344G point mutation].

Zhonghua Yi Xue Za Zhi. 2012 Oct 30;92(40):2835-8.

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.

Chin Med J (Engl). 2018 Jul 5;131(13):1569-1574. doi: 10.4103/0366-6999.235120.

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.

Eur J Hum Genet. 1993;1(1):80-7. doi: 10.1159/000472390.

[Recent advances in genetics of epilepsy. Genetic of mitochondrial epilepsy].

Rev Neurol. 2000;30(4):330-2.

MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).

Neuropediatrics. 2011 Aug;42(4):148-51. doi: 10.1055/s-0031-1283167. Epub 2011 Jul 15.

Mitochondrial diseases.

Curr Opin Neurol Neurosurg. 1992 Oct;5(5):622-32.

Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation.

Neurology. 1998 Nov;51(5):1447-50. doi: 10.1212/wnl.51.5.1447.

引用本文的文献

Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.

Nat Commun. 2024 Feb 9;15(1):1232. doi: 10.1038/s41467-024-45446-1.

Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies.

Biology (Basel). 2023 Nov 20;12(11):1452. doi: 10.3390/biology12111452.

Development of mitochondrial replacement therapy: A review.

Heliyon. 2020 Sep 14;6(9):e04643. doi: 10.1016/j.heliyon.2020.e04643. eCollection 2020 Sep.

Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease.

PLoS One. 2020 Sep 24;15(9):e0233666. doi: 10.1371/journal.pone.0233666. eCollection 2020.

Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?

Chin Med J (Engl). 2019 Jul 20;132(14):1752. doi: 10.1097/CM9.0000000000000337.

本文引用的文献

Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation.

Chin Med J (Engl). 2018 Oct 20;131(20):2433-2438. doi: 10.4103/0366-6999.243568.

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.

Chin Med J (Engl). 2018 Jul 5;131(13):1569-1574. doi: 10.4103/0366-6999.235120.

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19.

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.

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

J Clin Invest. 1993 Dec;92(6):2906-15. doi: 10.1172/JCI116913.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

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

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

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

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献