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• W2037925892 abstract "Charcot–Marie–Tooth disease (CMT) is the most commonly inherited peripheral neuropathy. CMT disease signs include distal limb neuropathy, abnormal gaiting, exacerbation of neuropathy, sensory defects and deafness. We generated a novel line of CMT2E mice expressing an hNF-LE397K transgene, which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons and decreased nerve conduction velocity. In this study, we showed that hNF-LE397K mice developed abnormal gait of the hind limbs. The identification of severe gaiting defects in combination with previously observed muscle atrophy, reduced axon caliber and decreased nerve conduction velocity suggests that hNF-LE397K mice recapitulate many of clinical signs associated with CMT2E. Therefore, hNF-LE397K mice provide a context for potential therapeutic intervention." @default.
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• W2037925892 date "2012-02-23" @default.
• W2037925892 modified "2023-10-15" @default.
• W2037925892 title "Expressing hNF-L^E397Kresults in abnormal gaiting in a transgenic model of CMT2E" @default.
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• W2037925892 doi "https://doi.org/10.1111/j.1601-183x.2012.00771.x" @default.
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