Related Experiment Video
Updated: Aug 24, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
G M Fabrizi1, T Cavallaro, C Angiari
1Department of Neurological and Visual Sciences, Section of Clinical Neurology, University of Verona, Italy. gianmaria.fabrizi@univr.it
Abstract:
The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the neurofilament-light gene (NF-L; CMT2E) manifesting electrophysiologically as the demyelinating type 1 CMT (CMT1) and pathologically as an axonopathy with giant axons and accumulation of disorganized NF. NF-L should be investigated in CMT2 as well as in CMT1 not associated with the usual genes PMP22, Cx32, and P0.
Related Concept Videos
Action Potentials
Action Potential
Membrane potential in neurons
Neurons typically have a resting membrane potential of about -70 millivolts (mV). When they receive...
Action Potential
Membrane potential in neurons
Neurons typically have a resting membrane potential of about -70 millivolts (mV). When they receive...
Neural Regulation

