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.

Charcot-Marie-Tooth type 1a in a child with Long QT syndrome / L. Losito, M. De Rinaldis, L. Gennaro, S.G. Priori, R. Bloise, M.T. Bassi, N. Bresolin, A. Trabacca. - In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. - ISSN 1090-3798. - 13:5(2009 Sep), pp. 459-462. [10.1016/j.ejpn.2008.07.011]

Charcot-Marie-Tooth type 1a in a child with Long QT syndrome

N. Bresolin
Penultimo
;
2009

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.
Charcot-Marie-Tooth; Long QT syndrome; Ion channels; Demyelinating sensorimotor neuropathy;
Settore MED/26 - Neurologia
set-2009
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/71548
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