Literature DB >> 22480698

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

Jean Bergounioux1, Anais Brassier, Caroline Rambaud, Olivier Bustarret, Caroline Michot, Laurence Hubert, Jean Baptiste Arnoux, Annie Laquerriere, Soumeya Bekri, Sophie Galene-Gromez, Damien Bonnet, Philippe Hubert, Pascale de Lonlay.   

Abstract

We report 2 cases of fatal rhabdomyolysis in children carrying an LPIN1 mutations preceded by similar electrocardiogram changes, including diffuse symmetrical high-amplitude T waves. Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit.
Copyright © 2012 Mosby, Inc. All rights reserved.

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Year:  2012        PMID: 22480698     DOI: 10.1016/j.jpeds.2012.02.033

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  23 in total

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10.  Myocardial Lipin 1 knockout in mice approximates cardiac effects of human LPIN1 mutations.

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Journal:  JCI Insight       Date:  2021-05-10
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