Genetic and clinical characteristics of<i>NEFL</i>-related Charcot-Marie-Tooth disease

Abstract

<i>NEFL</i>-related CMT is clinically and genetically heterogeneous. Based on this study, however, we propose mutational hotspots and relevant clinical-genetic associations that may be helpful in the evaluation of <i>NEFL</i> sequence variants and the differential diagnosis with other forms of CMT.