CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

The objective of this study was to analyse the mutations of the acetylcholine receptor (AChR) delta subunit gene (CHRND) in a patient with sporadic congenital myasthenic syndrome (CMS). Mutations in various genes encoding proteins expressed at the neuromuscular junction may cause CMS. Mutations of A...

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Bibliographic Details
Main Authors:	Müller, J, Baumeister, S, Schara, U, Cossins, J, Krause, S, von der Hagen, M, Huebner, A, Webster, R, Beeson, D, Lochmüller, H, Abicht, A
Format:	Journal article
Language:	English
Published:	2006

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

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