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Structural Abnormalities of the AChR Caused by Mutations Underlying Congenital Myasthenic Syndromes
Author(s) -
BEESON DAVID,
WEBSTER RICHARD,
EALING JOHN,
CROXEN REBECCA,
BROWNLOW SHARON,
BRYDSON MARTIN,
NEWSOMDAVIS JOHN,
SLATER CLARKE,
HATTON CHRIS,
SHELLEY CHRIS,
COLQUHOUN DAVID,
VINCENT ANGELA
Publication year - 2003
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1254.013
Subject(s) - congenital myasthenic syndrome , acetylcholine receptor , myasthenia gravis , medicine , receptor
A bstract : 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 ε‐subunit gene and result in AChR deficiency.