Article
Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.
Advances in experimental medicine and biology - 1 Jan 2009
Berciano José, García Antonio, Gallardo Elena, Ramón César, Combarros Onofre
Abstract excerpt
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...
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