一名患有神经铁蛋白病的韩国患者的新型铁蛋白轻链基因突变 - Suppr

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Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy.

作者信息

Yoon So Hoon, Kim Nan Young, Kim Yun Joong, Lyoo Chul Hyoung

机构信息

Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

Hallym Institute of Translational Genomics & Bioinformatics, Hallym University Medical Center, Anyang, Korea

出版信息

J Mov Disord. 2019 Jan;12(1):63-65. doi: 10.14802/jmd.18062. Epub 2019 Jan 30.

DOI:10.14802/jmd.18062

PMID:30732435

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6369382/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dcd2/6369382/c1ab2797c5f8/jmd-18062f1.jpg

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本文引用的文献

FTL mutation in a Chinese pedigree with neuroferritinopathy.

Neurol Genet. 2016 Apr 27;2(3):e74. doi: 10.1212/NXG.0000000000000074. eCollection 2016 Jun.

Cortical pencil lining in neuroferritinopathy: a diagnostic clue.

Neurology. 2015 Apr 28;84(17):1816-8. doi: 10.1212/WNL.0000000000001511. Epub 2015 Apr 1.

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

Neurobiol Dis. 2015 Sep;81:134-43. doi: 10.1016/j.nbd.2015.02.007. Epub 2015 Mar 12.

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.

J Neurol Sci. 2014 Jul 15;342(1-2):173-7. doi: 10.1016/j.jns.2014.03.060. Epub 2014 Apr 12.

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.

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Neuroferritinopathy in a Japanese family with a duplication in the ferritin light chain gene.

Neurology. 2008 Apr 15;70(16 Pt 2):1493-4. doi: 10.1212/01.wnl.0000310428.74624.95.

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相似文献

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[Clinical features of neuroferritinopathy].

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Int J Mol Sci. 2025 Jun 27;26(13):6197. doi: 10.3390/ijms26136197.

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Int J Mol Sci. 2022 Dec 30;24(1):675. doi: 10.3390/ijms24010675.

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Cell Mol Life Sci. 2021 Apr;78(7):3355-3367. doi: 10.1007/s00018-020-03747-w. Epub 2021 Jan 13.

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Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

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A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations.

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