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. Author manuscript; available in PMC: 2012 Oct 22.
Published in final edited form as: Ann N Y Acad Sci. 2008;1132:104–113. doi: 10.1196/annals.1405.039

FIGURE 2.

FIGURE 2

(A) Patient at age 4. Note eyelid ptosis, facial diplegia, open mouth, gothic palate, and gastrostomy. (B) Ultrastructural localization of EP AChR with peroxidase-labeled α-bungarotoxin. The density and distribution of AChR on the junctional folds is normal. x9500. (C) Structural model of the AChR α subunit (Protein Data Bank code 2BG9) shown in magenta with the Cys-loop and contiguous β-strand 7 highlighted in green. Ball and stick representations indicate V132 within the Cys-loop, Cys128 and 142 that form the loop, and W149 at the center of the α subunit portion of the binding pocket. (In color in Annals online.) (Reproduced by permission from Ref. 6.)