Structural Abnormalities of the AChR Caused by Mutations Underlying Congenital Myasthenic Syndromes
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.
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 ε‐subunit gene and result in AChR deficiency.