Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8343126 | Molecular Genetics and Metabolism | 2018 | 28 Pages |
Abstract
We observed abnormal haemodynamic profiles during exercise in 3/8 patients with lipin-1 deficiency, suggesting impaired muscle oxidative phosphorylation during exercise. Fever appeared to be an aggravating factor. One patient exhibited moderate cardiac dysfunction, which was possibly related to intracardiac stored lipid toxicity.
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Authors
Antoine Legendre, Diala Khraiche, Phalla Ou, François-Xavier Mauvais, Marine Madrange, Anne-Sophie Guemann, Jean-Philippe Jais, Damien Bonnet, Yamina Hamel, Pascale de Lonlay,