Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes

<p>Rapsyn is essential for clustering acetylcholine receptors (AChR) at the neuromuscular junction (NMJ). Congenital myasthenic syndrome (CMS) due to <em>RAPSN</em> mutations compromises neuromuscular transmission through a deficiency of AChR at the NMJ. <em>RAPSN</em>...

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Dades bibliogràfiques
Autor principal: Cheung, JY
Altres autors: Beeson, D
Format: Thesis
Idioma:English
Publicat: 2016