GAN基因复合杂合突变导致的具有异常神经影像学表现的巨大轴索性神经病 - Suppr

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Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene.

作者信息

Cai Shuang, Lin Jie, Liu Yi-Qi, Lu Jia-Hong, Zhao Chong-Bo

机构信息

Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China.

出版信息

Chin Med J (Engl). 2018 Oct 5;131(19):2371-2372. doi: 10.4103/0366-6999.241804.

DOI:10.4103/0366-6999.241804

PMID:30246730

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6166460/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aca8/6166460/8b801b39e355/CMJ-131-2371-g001.jpg

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本文引用的文献

Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.

Muscle Nerve. 2014 Oct;50(4):467-76. doi: 10.1002/mus.24321.

Phenotypic variability in giant axonal neuropathy.

Neuromuscul Disord. 2009 Apr;19(4):270-4. doi: 10.1016/j.nmd.2009.01.011. Epub 2009 Feb 23.

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.

Eur J Med Genet. 2008 Sep-Oct;51(5):426-35. doi: 10.1016/j.ejmg.2008.05.006. Epub 2008 Jun 17.

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Neuromuscul Disord. 2007 Aug;17(8):624-30. doi: 10.1016/j.nmd.2007.03.012. Epub 2007 Jun 22.

Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.

Hum Mol Genet. 2003 Apr 15;12(8):813-22. doi: 10.1093/hmg/ddg092.

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