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

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

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

机译：线粒体T14709C的新型突变导致一名中国患者的衣衫Red的红色纤维综合征肌阵挛性癫痫。

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Background:Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus,generalized epilepsy,cerebellar ataxia,and ragged red fibers (RRFs) in the muscle.T-to-C transition at nucleotide position 14709 in the mitochondrial tRNA glutamic acid (tRNAGlu) gene has previously been associated with maternally inherited diabetes and deafness.However,the association between MERRF and mitochondrial T14709C mutation (m.T14709C) has never been reported before.Methods:Clinical information of a 17-year-old patient was collected;muscle biopsy and next-generation sequencing (NGS) of whole mitochondrial and neuromuscular disease panel were then conducted.Finally,sanger sequencing was carried out to confirm the mutations.Results:The patient presented a typical MERRF phenotype with muscle weakness,epileptic seizure,clonic episodes,cerebellar ataxia,and spinal scoliosis.Muscle biopsy showed RRFs which indicated abnormal mitochondrial functions.NGS of whole mitochondrial gene revealed m.T14709C mutation,confirmed by Sanger sequencing.Conclusion:We present a sporadic patient with typical MERRF presentation carrying the mutation of m.T 14709C,which expanded the spectrum of m.T 14709C.

机译：背景：强直性红纤维（MERRF）综合征的肌阵挛性癫痫的特征是肌阵挛，全身性癫痫，小脑性共济失调和肌肉中的不规则性红纤维（RRF）。线粒体tRNA谷氨酸中第14709位核苷酸的T-C转变（tRNAGlu）基因以前曾与母亲遗传性糖尿病和耳聋有关，但是以前从未报道过MERRF与线粒体T14709C突变（m.T14709C）之间的关联。方法：收集一名17岁患者的临床信息;然后进行整个线粒体和神经肌肉疾病小组的肌肉活检和下一代测序（NGS）。最后，进行桑格测序以确认突变。结果：该患者表现出典型的MERRF表型，伴有肌无力，癫痫发作，阵挛性发作，小脑性共济失调和脊柱侧弯。肌肉活检显示RRFs提示线粒体功能异常。结论：我们为一名散发患者的典型MERRF表现携带m.T 14709C突变，扩大了m.T 14709C的谱图。

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来源
《中华医学杂志（英文版）》 |2018年第13期|1569-1574|共6页
作者
Rui Ban; Jun-Hong Guo; Chuan-Qiang Pu; Qiang Shi; Hua-Xu Liu; Yu-Tong Zhang;
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Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China;

Department of Neurology, School of Medicine, Nankai University, Tianjin 300071, China;

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

Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China;

Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China;

Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China;

Department of Neurology, Chinese People's Liberation Army General Hospital, Beijing 100853, China;

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收录信息中国科学引文数据库(CSCD);中国科技论文与引文数据库(CSTPCD);
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A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

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