Art

J-GLOBAL ID：202002259930011589   Reference number：20A0479309

Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

アセチルコリン受容体に対する抗体の存在と関連したColQ遺伝子における新規病原性変異体を伴う先天性筋無力症候群【JST・京大機械翻訳】

Author (7)： Tay Chee Geap (Division of Paediatric Neurology, Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia) ,  Fong Choong Yi (Division of Paediatric Neurology, Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia) ,  Li Limin (Division of Paediatric Neurology, Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia) ,  Ganesan Vigneswari (Department of Paediatrics, Penang General Hospital, Penang, Malaysia) ,  Teh Chee Ming (Department of Paediatrics, Penang General Hospital, Penang, Malaysia) ,  Gan Chin Seng (Division of Paediatric Intensive Care, Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia) ,  Thong Meow-Keong (Genetic Medicine Unit, Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia)
Material： Journal of Clinical Neuroscience
Volume： 72  Page： 468-471  Publication year： 2020 
JST Material Number： W3362A  ISSN： 0967-5868  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Congenital myasthenic syndrome...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=20A0479309&from=J-GLOBAL&jstjournalNo=W3362A") }}

Thesaurus term： differential diagnosis ,  *pathogenicity ,  *acetylcholine receptor ,  autoimmunity ,  *gene ,  child ,  mutation ,  hereditary disease ,  serum ,  phenotype ,  cholinesterase inhibitor ,  *antibody ,  autoantibody ,  immunotherapy ,  *myasthenia

Author keywords (5)： Congenital myasthenic syndrome ,  COLQ gene ,  Autoimmune myasthenia gravis ,  Anti-acetylcholine receptor antibody ,  AChR

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Nervous system diseases  (GN03000O)

Terms in the title (6)： アセチルコリン受容体 ,  抗体 ,  遺伝子 ,  病原性 ,  変異体 ,  先天性筋無力症候群