Synaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot–Marie–Tooth Type 2d

Abstract

We have uncovered a previously unrecognized aspect of axonal Charcot-Marie-Tooth disease in mouse models of CMT2D. Synaptic dysfunction contributes to impaired neuromuscular performance and disease progression. This suggests that drugs which improve synaptic efficacy at the NMJ could be considered in treating the pathophysiology of CMT2D patients.