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  • Title: A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.
    Author: Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M.
    Journal: J Peripher Nerv Syst; 2012 Jun; 17(2):206-9. PubMed ID: 22734907.
    Abstract:
    Mutations of the early growth response 2 (EGR2) gene have been reported in a variety of severe demyelinating neuropathies such as autosomal recessive congenital hypomyelinating neuropathy, autosomal dominant child-onset Dejerine-Sottas neuropathy, and autosomal dominant adult-onset Charcot-Marie-Tooth disease (CMT). Here, we report on a heterozygous mutation in EGR2 (c.1160C>A), which results in threonine at position 387 being changed to asparagine, in a family with a mild demyelinating form of adult-onset CMT. Of note, 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 CMT.
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