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Friedreich's ataxia Koji ABE 1 1Department of Neurology, Tohoku University School of Medicine Keyword: フリードライヒ失調症 , phosphatidylinositol , GAAリピート pp.478-483
Published Date 1997/6/10
DOI https://doi.org/10.11477/mf.1431900966
  • Abstract
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Friedreich's ataxia (FRDA) is a progressive neurodegenerative disorder involving both the central and peripheral nervous system and the heart. It is an autosomal recessive disorder characterized mainly by a progressive gait and limb ataxia, weakness and decreased tendon reflexes in legs, loss of position sense, dysarthria, and hypertrophic cardiomyopathy. A GAA trinucleotide repeat expansion was recently found in patients with FRDA in the critical region for the FRDA locus on chromosome 9q13.


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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