Widening the phenotypical spectrum of EGR2-related CMT: unusual phenotype for R409W mutation

Mutations in EGR2 are associated with a wide spectrum of inherited neuropathies: congenital hypomyelinating (MIM 605253)/Dejerine-Sottas (MIM 1459000) syndromes, Charcot-Marie-Tooth type 1 D (CMT1D) (MIM 607678) with variable onset and severity (Shiga et al. 2012), CMT1 with susceptibility to vincristine (Nakamura et al. 2012), and mild adult-onset axonal CMT (Sevilla et al. 2015). Herein, we report a 46-year-old man who had presented, since his late thirties, a slowly progressive symmetric distal limb weakness and atrophy, associated with mild distal sensory loss.

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