Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.

Journal article

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.

Authors: Beeson, D; Webster, R; Ealing, J; Croxen, R; Brownlow, S

• Publication status: Published
• Journal: Annals of the New York Academy of Sciences
• Volume: 998
• Issue: 1
• Pages: 114-124
• Publication date: 2003-09-01
• DOI: 10.1196/annals.1254.013
• EISSN: 1749-6632
• ISSN: 0077-8923
• Language: English
• Keywords: Extracellular Space; Myasthenic Syndromes, Congenital; Exons; Patch-Clamp Techniques; Male; Mutation; Reverse Transcriptase Polymerase Chain Reaction; Humans; Female; Protein Structure, Secondary; Neuromuscular Junction; Protein Subunits; Polymorphism, Single-Stranded Conformational; Transfection; Animals; Alleles; Cell Line; Receptors, Cholinergic; DNA Mutational Analysis; In Situ Hybridization