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Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes

Lookup NU author(s): Emeritus Professor Clarke Slater


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The objective was to define the molecular mechanisms underlying congenital myasthenic syndromes (CMS) by studying mutations within genes encoding the acetylcholine receptor (AChR) and related proteins at the neuromuscular junction. It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the E-subunit gene and result in AChR deficiency.

Publication metadata

Author(s): Beeson D, Webster R, Ealing J, Croxen R, Brownlow S, Brydson M, Newsom-Davis J, Slater C, Hatton C, Shelley C, Colquhoun D, Vincent A

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: Annals of the New York Academy of Sciences: 10th International Conference on Myasthenia Gravis and Related Disorders

Year of Conference: 2003

Pages: 114-124

ISSN: 0077-8923

Publisher: Wiley-Blackwell Publishing, Inc.


DOI: 10.1196/annals.1254.013

Library holdings: Search Newcastle University Library for this item

ISBN: 9781573313964