Mitochondrial tRNA Glutamic Acid Variant 14709T〉C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers

作     者：Josef Finsterer Fulvio A Scorza Ana C Fiorini Carla A Scorza Antonio Carlos de Almeida Finsterer Josef;Scorza Fulvio A;Fiorini Ana C;Scorza Carla A;de Almeida Antonio Carlos

作者机构：Department of Neurology City Hospital Rudolfstiftung Vienna Austria Department of Neuroscience University of Sao Paolo Sao Paolo Brazil Department of Audiology University of Sao Paolo Sao Paolo Brazil Department of Biosystems Engineering Laboratory of Experimental and Computational Neuroscience Sao Paolo Brazi 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2018年第131卷第20期

页      面：2518-2519页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

摘      要：We read with interest the case report by Ban et al. about a 17-year-old male with myoclonic epilepsy with ragged red fibers （MERRF） syndrome being attributed to the mitochondrial tRNA glutamic acid （tRNA [Glu]） variant mitochondrial 14709T〉C. The authors claimed that the variant occurred sporadically and has not been reported in association with a MERRF phenotype so far. We have the following comments and concerns.