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Cu/Zn SOD gene mutations and motor neuron death in familial ALS Koji ABE 1 1Department of Neurology, Tohoku University School of Medicine Keyword: 筋萎縮性側索硬化症 , スーパーオキシドジスムターゼ , ニューロフィラメント , グルタミン酸輸送蛋白 pp.899-903
Published Date 1997/12/10
DOI https://doi.org/10.11477/mf.1431901009
  • Abstract
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We report clinical characteristics of familial amyotrophic lateral sclerosis (FALS) with six different missense point mutations in exons 1, 2, 4, and 5 of the Cu/Zn superoxide dismutase (SOD) gene, that result in amino acid substitutions of cystein6 by phenylalanine (C6F), histidine46 by arginine (H46R), leucine84 by valine (L84V), isoleucine104 by phenylalanine (I104F), Serine134 by asparagine (S134N), and valine148 by isoleucine (V148I), in 7 Japanese families. Although features of progressive neurogenic muscular atrophy was common in patients of these families, patients of each family showed characteristic clinical features.


Copyright © 1997, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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