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A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene.

作者信息

Choi Ko-Eun, Yim Jisook, Kim Myungshin, Lee Jung Hwan

机构信息

Department of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

J Clin Neurol. 2022 Mar;18(2):244-246. doi: 10.3988/jcn.2022.18.2.244.

DOI:10.3988/jcn.2022.18.2.244
PMID:35274844
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8926773/
Abstract
摘要

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本文引用的文献

1
Neuropathy.神经病变
Handb Clin Neurol. 2018;148:653-665. doi: 10.1016/B978-0-444-64076-5.00042-9.
2
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.全外显子组测序提高遗传性周围神经病的基因诊断。
Mol Genet Genomic Med. 2015 Mar;3(2):143-54. doi: 10.1002/mgg3.126. Epub 2015 Jan 14.
3
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.分析罕见的夏科-马里-图思神经病变的组织病理学特征以阐明其发病机制。
Arch Neurol. 2010 Dec;67(12):1498-505. doi: 10.1001/archneurol.2010.303.
4
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.伴有NEFL基因突变的夏科-马里-图斯病的临床和电生理特征
Arch Neurol. 2007 Jul;64(7):966-70. doi: 10.1001/archneur.64.7.966.
5
Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!轴索性夏科-马里-图思病：迷雾正在慢慢散去！
Neurology. 2005 Jul 26;65(2):186-7. doi: 10.1212/01.wnl.0000173904.97549.94.