N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.
作者信息
Yang Yi, Gu Li-Qiang, Burnette William B, Li Jun
机构信息
Department of Microsurgery and Orthopedic Trauma, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Department of Neurology, Vanderbilt Brain Institute and Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA.
出版信息
J Neurol Sci. 2016 Jun 15;365:46-7. doi: 10.1016/j.jns.2016.04.007. Epub 2016 Apr 9.
Abstract
摘要
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本文引用的文献
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NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
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Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.
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Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
Hum Mol Genet. 2015 Apr 15;24(8):2163-74. doi: 10.1093/hmg/ddu736. Epub 2014 Dec 30.
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