A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.

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作者： Elizabeth J,Stone ^[1] ; Stephen J,Kolb ^[2] ; Anthony,Brown ^[3]

作者单位： Department of Neuroscience, Ohio State University, Columbus, Ohio, USA. ^[1] Neuroscience Graduate Program, Ohio State University, Columbus, Ohio, USA. ^[2] Department of Neurology, Ohio State University, Columbus, Ohio, USA. ^[3] Department of Biological Chemistry and Pharmacology, Ohio State University, Columbus, Ohio, USA. ^[4]

关键词 CMT1F CMT2E Charcot-Marie-Tooth disease Type 1F Charcot-Marie-Tooth disease Type 2E NEFL neurofilament

主题词夏科-马里-图斯病(Charcot-Marie-Tooth Disease);人类(Humans);中间丝(Intermediate Filaments);突变(Mutation);神经微丝蛋白质类(Neurofilament Proteins)

DOI 10.1002/cm.21676

PMID 33993654

发布时间 2023-05-13

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