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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.

Type

Journal article

Journal

Ann N Y Acad Sci

Publication Date

09/2003

Volume

998

Pages

114 - 124

Keywords

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