2003•Annals of the New York Academy of SciencesRequires access
Structural Abnormalities of the AChR Caused by Mutations Underlying Congenital Myasthenic Syndromes
David Beeson, Richard G. Webster, John Ealing, REBECCA CROXEN, Sharon Brownlow, MARTIN BRYDSON, John Newsom–Davis, Clarke R. Slater, CHRIS HATTON, Chris Shelley, David Martin Colquhoun, Angela Carmen Vincent
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Abstract
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 epsilon-subunit gene and result in AChR deficiency.