Figure 5.

Muscle endplate studies. (A) Muscle biopsy from quadriceps femoris in Patient 1 at age 6 months were labelled with Alexa Fluor® 488-fasciculin and Alexa Fluor® 594-α-bungarotoxin and analysed using confocal microscopy and ImageJ software. The contour of the motor endplates corresponding to the fasciculine staining (green) was selected (yellow line) and then applied to the red channel. As shown by the arrows, the α-bungarotoxin staining (red) did not completely fill the selection area. (B) Staining for the presynaptic marker S100β showed terminal Schwann cells reaching the muscle endplates. It appeared that the presynaptic marker S100β did not fully cover some of the muscle endplates, although an age-matched control muscle biopsy to compare with was not available.