Charcot-Marie-Tooth type 1a in a child with Long QT syndrome.
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.
Losito
Luciana
L
IRCCS E. Medea, Neurorehabilitation I Unit, Developmental Neurology and Functional Rehabilitation, Ostuni, Brindisi, Italy.
De Rinaldis
Marta
M
Gennaro
Leonarda
L
Priori
Silvia G
SG
Bloise
Raffaella
R
Bassi
Maria Teresa
MT
Bresolin
Nereo
N
Trabacca
Antonio
A
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