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Internal Medicine Articles on MDLinx Top Read Articles
of 2012
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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).

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