LAMA5 and congenital myasthenic syndrome: Since homozygous LAMA5 mutations have been linked to a pre-synaptic form of congenital myasthenic syndrome associated with myopia, facial tics, and failure of neuromuscular transmission [51], increase of this protein in SH3TC2-deficient nerves supports the concept of prevention of NMJ-breakdown in Sh3tc2ΔEx1/ΔEx1 animals.