Fatal rhabdomyolysis in 2 children with LPIN1 mutations.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 22480698.
- Also identified by DOI 10.1016/j.jpeds.2012.02.033.
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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.
Medical subject headings
- DNA
- Genetic Predisposition to Disease
- Mutation
- Phosphatidate Phosphatase
- Rhabdomyolysis