A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Abstract Background 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...

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Bibliographic Details
Main Authors: Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Format: Article
Language:English
Published: BMC 2018-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Congenital myasthenic syndromes
CMS
Neuromuscular junction
Neuromuscular disease
Nomenclature
Ontology
Online Access:http://link.springer.com/article/10.1186/s13023-018-0955-7

Internet

http://link.springer.com/article/10.1186/s13023-018-0955-7

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