We generated a mouse model of CMT type 2E (CMT2E) expressing human neurofilament light E396K (hNF-L<sup>E396K</sup> ), which develops decreased motor nerve conduction velocity, ataxia and muscle atrophy by 4 months of age.
We conclude that NEFL E396K mutation may manifest with a novel DI-CMT phenotype, characterized by simultaneous involvement of the peripheral and central nervous system.