Article

Novel variants in <i>ryanodine receptor type 3</i> predispose to acute rhabdomyolysis due to impaired autophagy

2026-03-03

Abstract excerpt

Rhabdomyolysis is the acute breakdown of skeletal muscle resulting from failure of cellular homeostasis in response to metabolic stress. Recurrent forms are frequently linked to inherited defects affecting energy metabolism or calcium handling. Ryanodine receptor type 3 (RyR3) is an intracellular calcium release channel, expressed in skeletal muscle, that contributes to the fine-tuning of calcium signaling. Althou...

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Literature Corpus work: dc8f3680-1023-54af-9482-96bb4ac50282
DOI: 10.64898/2026.02.27.26345848

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