Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers.
作者信息
Finsterer Josef, Scorza Fulvio A, Fiorini Ana C, Scorza Carla A, de Almeida Antonio Carlos
机构信息
Department of Neurology, City Hospital Rudolfstiftung, Vienna, Austria.
Department of Neuroscience, University of Sao Paolo, Sao Paolo, Brazil.
出版信息
Chin Med J (Engl). 2018 Oct 20;131(20):2518-2519. doi: 10.4103/0366-6999.243557.
Abstract
摘要
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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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