Article
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Journal of inherited metabolic disease - 1 Nov 2012
Michot Caroline, Hubert Laurence, Romero Norma B, Gouda Amr, Mamoune Asmaa, Mathew Suja, Kirk Edwin, Viollet Louis, Rahman Shamima, Bekri Soumeya, Peters Heidi, McGill James, Glamuzina Emma, Farrar Michelle, von der Hagen Maya, Alexander Ian E, Kirmse Brian, Barth Magalie, Laforet Pascal, Benlian Pascale, Munnich Arnold, JeanPierre Marc, Elpeleg Orly, Pines Ophry, Delahodde Agnès, de Keyzer Yves, de Lonlay Pascale
Abstract excerpt
BACKGROUND: Recessive LPIN1 mutations were identified as a cause of severe rhabdomyolysis in pediatric patients. The human lipin family includes two other closely related members, lipin-2 and 3, which share strong homology and similar activity. The study aimed to determine the involvement of the LPIN family genes in a cohort of pediatric and adult patients (n = 171) presenting with muscular symptoms, ranging from...
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