| The congenital myasthenic syndromes. | |
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MedLine Citation:
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PMID: 18708269 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Jackie Palace; David Beeson |
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Publication Detail:
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Type: Journal Article; Review Date: 2008-08-15 |
Journal Detail:
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Title: Journal of neuroimmunology Volume: 201-202 ISSN: 0165-5728 ISO Abbreviation: J. Neuroimmunol. Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2008-09-22 Completed Date: 2008-12-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8109498 Medline TA: J Neuroimmunol Country: Netherlands |
Other Details:
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Languages: eng Pagination: 2-5 Citation Subset: IM |
Affiliation:
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Department of Clinical Neurology, Level 3, West Wing, John Radcliffe Hospital, Headley Way, Headington OX3 9DU, UK. jacqueline.palace@clneuro.ox.ac.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Humans Myasthenic Syndromes, Congenital* / genetics, pathology, physiopathology |
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