Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication




Journal article


Ann N Y Acad Sci

Publication Date





114 - 124


Alleles, Animals, Cell Line, DNA Mutational Analysis, Exons, Extracellular Space, Female, Humans, In Situ Hybridization, Male, Mutation, Myasthenic Syndromes, Congenital, Neuromuscular Junction, Patch-Clamp Techniques, Polymorphism, Single-Stranded Conformational, Protein Structure, Secondary, Protein Subunits, Receptors, Cholinergic, Reverse Transcriptase Polymerase Chain Reaction, Transfection