Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

Abstract excerpt

Many congenital myasthenic syndromes (CMS) are associated with mutations in the genes encoding the acetylcholine receptor (AChR), an oligomeric protein with the structure alpha(2)betadelta epsilon. AChR deficiency is frequently due to homozygous or heteroallelic mutations in the AChR epsilon subunit, most of which cause truncation of the polypeptide chain and loss of surface expression of AChR. Here we identified...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cysteine
• Share to DNA Mutational Analysis