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Reply to "Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers".

作者信息

Ban Rui, Guo Jun-Hong, Pu Chuan-Qiang, Shi Qiang, Liu Hua-Xu, Zhang Yu-Tong

机构信息

Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853; School of Medicine, Nankai University, Tianjin 300071, China.

Department of Neurology, The First Hospital of Shanxi Medical University, Taiyuan, Shanxi 030001, China.

出版信息

Chin Med J (Engl). 2018 Oct 20;131(20):2519-2520. doi: 10.4103/0366-6999.243575.

DOI:10.4103/0366-6999.243575
PMID:30334547
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6202586/
Abstract
摘要

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2
Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers.线粒体谷氨酸转运RNA 14709T>C变异，表现为伴有破碎红纤维的肌阵挛性癫痫。
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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。
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本文引用的文献

1
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.
2
[Myoclonus epilepsy with ragged-red fibers: a case report and literature review].
Beijing Da Xue Xue Bao Yi Xue Ban. 2015 Dec 18;47(6):1034-6.
3
Scoliosis in mitochondrial myopathy: case report and review of the literature.线粒体肌病中的脊柱侧弯：病例报告及文献综述
Medicine (Baltimore). 2015 Feb;94(6):e513. doi: 10.1097/MD.0000000000000513.
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
[Development of a DNA biochip for detection of known mtDNA mutations associated with MELAS and MERRF syndromes.].[用于检测与线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）及肌阵挛性癫痫伴破碎红纤维（MERRF）综合征相关的已知线粒体DNA（mtDNA）突变的DNA生物芯片的研发。]
Yi Chuan. 2008 Oct;30(10):1279-86. doi: 10.3724/sp.j.1005.2008.01279.
6
Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.线粒体脑肌病患者肌肉线粒体DNA的点突变
Chin Med J (Engl). 2001 Dec;114(12):1273-5.