换一批
换一批Mitochondrial tRNA Glutamic Acid Variant 14709T＞C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers
摘要We read with interest the case report by Ban et al.[1] 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 mitochondria114709T＞C.The authors claimed that the variant occurred sporadically and has not been reported in association with a MERRF phenotype so far.[1] We have the following comments and concerns.
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