Structural Abnormalities of the AChR Caused by Mutations Underlying Congenital Myasthenic Syndromes
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 ?-subunit gene and result in AChR deficiency.
mutations congenital myasthenic syndromes (cms) acetylcholine receptor (achr) achr deficiency green fluorescent protein fast channel slow channel in situ hybridization