Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in <b><i>NEFH</i></b> in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in <b><i>NEFH</i></b> for Charcot-Marie-Tooth 2

Abstract

We identified a novel stop loss variant in NEFH that is likely pathogenic for CMT2, and the results provide further evidence for the role of an aberrant assembly of neurofilament in CMT.