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Updated: May 31, 2025

Functional Characterization of Endogenously Expressed Human RYR1 Variants
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Carnitine Palmitoyltransferase II (CPT2) Deficiency in a Patient With Recurrent Rhabdomyolysis: A Case Report

Kevin A Lease1, David Wang1

  • 1Internal Medicine, University of Missouri School of Medicine, Columbia, USA.

Cureus
|January 24, 2025
PubMed

Keywords:
beta-oxidationcpt2 deficiencymedium-chain triglyceridesnon-traumatic rhabdomyolysisrare genetic diseases

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