The <i>EGR2</i> gene is involved in axonal Charcot−Marie−Tooth disease

Abstract

This is the first report of an EGR2 mutation presenting as an axonal CMT phenotype with variable severity. This study broadens the phenotype of the EGR2-related neuropathies and suggests that the genetic testing of patients suffering from axonal CMT should include the EGR2 gene.