A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease
Journal of the Peripheral Nervous System, 07/05/2012
Shiga K et al. – Both the proband and her asymptomatic son exhibited neither pes cavus nor champagne–bottle leg atrophy, suggesting that the heterozygous T387N mutation may result in a relatively mild phenotype of demyelinating Charcot–Marie–Tooth disease (CMT).
