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Article

Fatal rhabdomyolysis in 2 children with LPIN1 mutations.

The Journal of pediatrics - 1 Jun 2012

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

Abstract excerpt

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 rhabdomyolysi...

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Source

Identifiers

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

Genes

LPIN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22480698-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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