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Article

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

PLoS genetics - 12 Mar 2010

Rajab Anna, Straub Volker, McCann Liza J, Seelow Dominik, Varon Raymonda, Barresi Rita, Schulze Anne, Lucke Barbara, Lützkendorf Susanne, Karbasiyan Mohsen, Bachmann Sebastian, Spuler Simone, Schuelke Markus

Abstract excerpt

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 tachycardias. Further symptoms comprised myopathy with muscle rippling, skeletal as well as smooth-muscle hypertrophy,...

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PMID: 20300641
DOI: 10.1371/journal.pgen.1000874
PMCID: PMC2837386

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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