Figure 5.

The adult AChR and the genetics of AChR-deficiency and kinetics abnormalities of the AChR. (A) The AChR is made up of five subunits organised around a central pore. Each subunit is composed of an extracellular domain, four transmembrane domains (M1–M4), and a large cytoplasmic loop that links M3 and M4; (B,C) Relative proportion of genetic defects in patients with AChR deficiency and kinetic abnormalities of the AChR within the Oxford CMS cohort. AChR deficiency is mainly caused by mutations in CHRNE encoding the ε-subunit of the AChR. SCS is often caused by mutations in CHRNA1 encoding the AChR α-subunit, while FCS is most commonly due to mutations in CHRNE.