Article
Cardiac function and exercise adaptation in 8 children with LPIN1 mutations.
Molecular genetics and metabolism - 1 Mar 2018
Legendre Antoine, Khraiche Diala, Ou Phalla, Mauvais François-Xavier, Madrange Marine, Guemann Anne-Sophie, Jais Jean-Philippe, Bonnet Damien, Hamel Yamina, de Lonlay Pascale
Abstract excerpt
INTRODUCTION: Lipin-1 deficiency is a major cause of rhabdomyolysis that are precipitated by febrile illness. The prognosis is poor, with one-third of patients dying from cardiac arrest during a crisis episode. Apart from acute rhabdomyolysis, most patients are healthy, showing normal clinical and cardiac ultrasound parameters. PATIENTS AND METHODS: We report cardiac and exercise examinations of 8 children...
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