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Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Michot C, Hubert L, Romero NB, Gouda A, Mamoune A, Mathew S, Kirk E, Viollet L, Rahman S, Bekri S, Peters H, McGill J, Glamuzina E, Farrar M, von der Hagen M, Alexander IE, Kirmse B, Barth M, Laforet P, Benlian P, Munnich A, JeanPierre M, Elpeleg O, Pines O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: elpeleg o. J Inherit Metab Dis. 2012 Nov;35(6):1119-28. doi: 10.1007/s10545-012-9461-6. Epub 2012 Apr 6. J Inherit Metab Dis. 2012. PMID: 22481384
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Müller-Felber W, Venkateswaran R, Ogier H, Desguerre I, Altuzarra C, Thompson E, Smitka M, Huebner A, Husson M, Horvath R, Chinnery P, Vaz FM, Munnich A, Elpeleg O, Delahodde A, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: elpeleg o. Hum Mutat. 2010 Jul;31(7):E1564-73. doi: 10.1002/humu.21282. Hum Mutat. 2010. PMID: 20583302 Free article.
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, Hubert L, Saada A, de Keyzer Y, Eshel G, Vaz FM, Pines O, Elpeleg O. Zeharia A, et al. Among authors: elpeleg o. Am J Hum Genet. 2008 Oct;83(4):489-94. doi: 10.1016/j.ajhg.2008.09.002. Epub 2008 Sep 25. Am J Hum Genet. 2008. PMID: 18817903 Free PMC article.
311 results