Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes
Rapsyn is essential for clustering acetylcholine receptors (AChR) at the neuromuscular junction (NMJ). Congenital myasthenic syndrome (CMS) due to RAPSN mutations compromises neuromuscular transmission through a deficiency of AChR at the NMJ. RAPSN-CMS is autosomal recessive, and most patients harbo...
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University of Oxford
2015
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| Online Access: | https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.719985 |