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作 者:Xuedong Li Mengrong Wang Xiang Gao Chenyu Li Chunyu Chen Yun Qi Ying Wan Wei Yu
机构地区:[1]State Key Laboratory of Genetic Engineering,School of Life Sciences,Zhongshan Hospital,Fudan University,Shanghai,200438,China [2]School of Basic Medic Science,Southwest Medical University,Luzhou,64600,China [3]Department of Geriatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,430030,China
出 处:《Neuroscience Bulletin》2024年第4期539-543,共5页神经科学通报(英文版)
基 金:supported by the National Natural Science Foundation of China(32370825,92249302,92049301,31821002);the Hubei Provincial Natural Science Foundation 2020CFB668.
摘 要:Dear Editor,Charcot-Marie-Tooth disease,the most common inherited peripheral neuropathology,is highly heterogeneous among patients and associated with mutations in~100 different genes at an incidence of at least 1:2,500[1].Over 30 mutated genes have been identified in CMT2,which is characterized by peripheral axon degeneration and distal deficits in motor function[2].The aminoacyl-tRNA synthetase is the largest family in CMT2 and includes tyrosyl-tRNA synthetase(YARS,tyrosyl-tRNA synthetase).
关 键 词:Marie DEGENERATION PATHOLOGY
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