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Congenital myasthenic syndromes. Ken-ichiro ODA 1 1Department of Internal Medicine, Saga Medical School pp.130-138
Published Date 1986/2/10
DOI https://doi.org/10.11477/mf.1431905770
  • Abstract
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 Recently congenital myasthenic syndromes(CMS) have been adequately characterized by clinical, morphological and electrophysiological criteria. These syndromes are attributed to genetic disorders of synaptogenesis, and are different from two acquired autoimmune diseases, myasthenia gravis and Lambert-Eaton syndrome. Four types of CMS have been reported ; (i) disorders in ACh synthesis, mobilization or release, (ii) endplate AChE deficiency, (iii) slow-channel syndrome and (iv) endplate AChR deficiency (congenital myasthenia gravis, CMG).

 Congenital canine myasthenia gravis is a model of human CMG. From the experimental study, it has been determined that canine CMG is characterized by the selective deficiency of junctional AChR with preservation of extrajunctional AChR synthesis. Preliminary experiment of muscle cell culture indicated that the process of AChR clustering at neuromuscular junction might be disturbed in canine CMG.


Copyright © 1986, 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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