Phenotype and clinical evolution of charcot-marie-tooth disease type 1A duplication

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. © Springer Science+Business Media B.V. 2009.