A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data i...
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasing knowledge about the genetic origins, specific features and potential treatments for the known CMS entities, the lack of standard...
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Full title
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
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TN_cdi_doaj_primary_oai_doaj_org_article_deb2546230134a5a95ce25f9504d37d5
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_deb2546230134a5a95ce25f9504d37d5
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-018-0955-7
