Why the study?
Rhabdomyolysis events are provoked by external triggers, possibly combined with genetic susceptibility, but comprehensive descriptions of triggers and implicated genetic variants were needed.
Population
1302 patients with an acute CK level exceeding 2000 IU/l
Design
Retrospective single-center study
Authors
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Supports targeted NGS in suspected hereditary rhabdomyolysis; leaves open routine diagnostic implementation.
The study highlights that rhabdomyolysis is often triggered by anoxia and identifies a broad spectrum of genetic variants contributing to susceptibility, suggesting a role for next-generation sequencing in diagnosis.
Kruijt et al. (2020) studied this question.
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