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

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 potenti...

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書目詳細資料
發表在:Orphanet J Rare Dis
Main Authors: Thompson, Rachel, Abicht, Angela, Beeson, David, Engel, Andrew G., Eymard, Bruno, Maxime, Emmanuel, Lochmüller, Hanns
格式: Artigo
語言:Inglês
出版: BioMed Central 2018
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6260762/
https://ncbi.nlm.nih.gov/pubmed/30477555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0955-7
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