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Updated: Jun 15, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication
José Berciano1, Antonio García, Elena Gallardo
1Service of Neurology, Clinical Neurophysiology and Radiology, University Hospital Marqués de Valdecilla, University of Cantabria, CIBERNED and IFIMAV, Santander, Spain. jaberciano@humv.es
Abstract:
In this paper we revise the phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication (CMT1A). We mainly focus on four phenotypic hallmarks: (i) "classic" phenotype, as currently observed in proband patients; (ii) evolution of mild phenotype of secondary cases in infancy and early childhood; (iii) proximal lower-limb musculature involvement as a late phenotypic feature; and (iv) minimal adult phenotype. We also briefly revise genetic, electrophysiological, pathological and neuroimaging data of the disease.
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