LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family

Nunes, D.; Nogueira, C.; Lopes, A.; Chaves, P.; Rodrigues, E.; Cardoso, T.; Leão Teles, E.; Vilarinho, L.

http://hdl.handle.net/10400.18/4536

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Abstract(s)

Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting in myoglobinuria and, in severe cases, acute renal failure. In adults is typically due to trauma, intoxication or infection, whereas in children is frequently associated with inherited muscle disorders. LPIN1 mutations were identified as a cause of severe recurrent RM, which usually begin in childhood, and infections are the most frequent trigger.