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

<p style="text-align:justify;"> <b>Background:</b> 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 increasin...

詳細記述

書誌詳細
主要な著者: Thompson, R, Abicht, A, Beeson, D, Engel, A, Eymard, B, Maxime, E, Lochmüller, H
フォーマット: Journal article
言語:English
出版事項: BioMed Central 2018

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