In this study, we describe the clinical and electrophysiological features of two families with early-onset CMT carrying nonsense variants in the NEFL gene.<h4>Methods</h4>Clinical, genetic, and electrophysiological data were collected prospectively and systematically analyzed.<h4>Results</h4>Five patients from two unrelated families were included. The gene discussed is NEFL; the disease is Charcot-Marie-Tooth disease.