Document Detail


The congenital myasthenic syndromes.
MedLine Citation:
PMID:  18708269     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission characterised by fatigable muscle weakness. Thus far, genetic analysis has identified mutations in eleven different genes but it is clear that additional phenotypic subgroups exist where the underlying genetics has not yet been defined. Although each syndrome results from defective synaptic transmission at the neuromuscular junction, the patients show a variable set of phenotypes. Here, we provide a brief clinical review.
Authors:
Jackie Palace; David Beeson
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Publication Detail:
Type:  Journal Article; Review     Date:  2008-08-15
Journal Detail:
Title:  Journal of neuroimmunology     Volume:  201-202     ISSN:  0165-5728     ISO Abbreviation:  J. Neuroimmunol.     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-09-22     Completed Date:  2008-12-23     Revised Date:  2014-02-19    
Medline Journal Info:
Nlm Unique ID:  8109498     Medline TA:  J Neuroimmunol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  2-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Humans
Myasthenic Syndromes, Congenital* / genetics,  pathology,  physiopathology
Grant Support
ID/Acronym/Agency:
G117/490//Medical Research Council

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