Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood

Abstract

The electrophysiologic studies were concordant with the presence or absence of the CMT-1A DNA duplication. In most CMT-1A patients, symptoms appear in early childhood, although the florid clinical picture does not occur until the second decade of life. Serial electrophysiologic studies can detect the CMT-1A gene carrier in infancy.