Article
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.
American journal of human genetics - 1 Oct 2008
Zeharia Avraham, Shaag Avraham, Houtkooper Riekelt H, Hindi Tareq, de Lonlay Pascale, Erez Gilli, Hubert Laurence, Saada Ann, de Keyzer Yves, Eshel Gideon, Vaz Frédéric M, Pines Ophry, Elpeleg Orly
Abstract excerpt
Recurrent episodes of life-threatening myoglobinuria in childhood are caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. Nonetheless, approximately half of the patients do not suffer from a defect in any of these pathways. Using homozygosity mapping, we identified six deleterious mutations in the LPIN1 gene in patients who presented at 2-7 years of...
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