title: Charcot-Marie-Tooth type 1a in a child with Long QT syndrome.
abstract: Charcot-Marie-Tooth disease (CMTD) is a hereditary demyelinating peripheral neuropathy clinically presenting with sensory and motor defects, but rarely affecting cardiac function. Long QT syndrome (LQTS) is a congenital or acquired cardiovascular disorder characterized by ventricular depolarization defect. No studies reported CMTD in association with LQTS. We describe a child and his family who had both CMT1A and LQTS.
authors.affiliation: IRCCS E. Medea, Neurorehabilitation I Unit, Developmental Neurology and Functional Rehabilitation, Ostuni, Brindisi, Italy.
authors.forename: Luciana
authors.initials: L
authors.lastname: Losito
authors.forename: Marta
authors.initials: M
authors.lastname: De Rinaldis
authors.forename: Leonarda
authors.initials: L
authors.lastname: Gennaro
authors.forename: Silvia G
authors.initials: SG
authors.lastname: Priori
authors.forename: Raffaella
authors.initials: R
authors.lastname: Bloise
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bassi
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Antonio
authors.initials: A
authors.lastname: Trabacca
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics*; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics; D004252:DNA Mutational Analysis; D015716:Electrocardiography, Ambulatory; D004594:Electrophysiology; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications* / Q000235:genetics*; D008297:Male; D010375:Pedigree; D055815:Young Adult