Fig. 4From: Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthExpression of wild-type (αβδε) and mutant (αβδC257Rε) acetylcholine receptors (AChR) in HEK 293 cells. AChR expression was determined through the binding of 125I α-Bungarotoxin (125I α-BuTx) to AChR on the cell surface (n = 6). Note: numbering of the mutation includes the pre-peptide sequenceBack to article page