Article
A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experience.
Muscle & nerve - 1 Sept 2015
Pichler Karin, Scholl-Buergi Sabine, Birnbacher Robert, Freilinger Michael, Straub Simon, Brunner Jürgen, Zschocke Johannes, Bittner Reginald E, Karall Daniela
Abstract excerpt
INTRODUCTION: Lipin 1 gene (LPIN1) mutations lead to cellular energy deficiency and cause up to 50% of the rhabdomyolysis episodes seen in pediatric patients. These episodes are associated with poor prognosis, as treatment options have been limited. We propose a novel therapeutic strategy based on prevention and early treatment of catabolism. METHODS: Five patients were diagnosed with LPIN1 mutations. They were...
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