Article
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
Annals of the New York Academy of Sciences - 1 Sept 2003
Beeson David, Webster Richard, Ealing John, Croxen Rebecca, Brownlow Sharon, Brydson Martin, Newsom-Davis John, Slater Clarke, Hatton Chris, Shelley Chris, Colquhoun David, Vincent Angela
Abstract excerpt
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.
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