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