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...

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: Thompson, R, Abicht, A, Beeson, D, Engel, A, Eymard, B, Maxime, E, Lochmüller, H
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: BioMed Central 2018