Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.

We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4) of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycard...

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Bibliographic Details
Main Authors: Anna Rajab, Volker Straub, Liza J McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2837386?pdf=render

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http://europepmc.org/articles/PMC2837386?pdf=render

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