DES and Menkes disease: Moreover, the uncoupling of the AChRs from the postsynaptic desmin IF network led to the loss of membrane infoldings and to the disorganization of the NMJ microenvironment, including its invasion by microtubules, ultimately leading to impaired body balance and severe muscle weakness in Pax7-Cre/cKO mice, closely mimicking the clinical disease manifestations of EBS-MD-MyS patients.