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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.
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.
URL: http://dx.doi.org/10.1196/annals.1254.013
DOI: 10.1196/annals.1254.013
Library holdings: Search Newcastle University Library for this item
ISBN: 9781573313964