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

Autor:	Raffaella Bloise, Antonio Trabacca, Leonarda Gennaro, Marta De Rinaldis, Maria Teresa Bassi, Luciana Losito, Silvia G. Priori, Nereo Bresolin
Rok vydání:	2007
Předmět:	Cardiac function curve Adult Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Long QT syndrome DNA Mutational Analysis Chromosome Disorders Disease Demyelinating sensorimotor neuropathy Young Adult Charcot-Marie-Tooth Disease Cardiovascular Disorder Gene Duplication Medicine Humans cardiovascular diseases Child Ventricular depolarization business.industry General Medicine medicine.disease Surgery Pedigree Electrophysiology Long QT Syndrome Peripheral neuropathy Pediatrics Perinatology and Child Health Electrocardiography Ambulatory Female Neurology (clinical) business
Zdroj:	European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 13(5)
ISSN:	1532-2130
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dfc788813f36fa6a6040044542d083f https://pubmed.ncbi.nlm.nih.gov/18799333 Zobrazit plný text záznamu Full Text from ScienceDirect