Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.
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.
Service of Neurology, Clinical Neurophysiology and Radiology, University Hospital Marqués de Valdecilla, University of Cantabria, CIBERNED and IFIMAV, Santander, Spain. jaberciano@humv.es
José
J
Berciano
Antonio
A
García
Elena
E
Gallardo
César
C
Ramón
Onofre
O
Combarros
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D020440:Gene Duplication; D006801:Humans; D007866:Leg / Q000473:pathology; D010641:Phenotype