ArticleEuropean journal of neurology2021
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
Article in European journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.Journal of clinical immunology · 2024Pooled it
- Rhabdomyolysis Associated With Heated Massage Therapy in a Patient Without Major Trauma: A Case Report.Clinical case reports · 2026Article
- When to think of genetic causes for rhabdomyolysis? A Brazilian single-center exploratory study.Arquivos de neuro-psiquiatria · 2026Article
- Article
- Review
- Rhabdomyolysis: a narrative review.Arquivos de neuro-psiquiatria · 2026Review
- Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.Journal of clinical medicine · 2026Review
- Ethnicity Risk and Exertional Rhabdomyolysis: A Narrative Review.Advances in therapy · 2025Review
- Article
- Article
- Article
- Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.Brain : a journal of neurology · 2025Article
- Characterisation of phenotypic patterns in equine exercise-associated myopathies.Equine veterinary journal · 2025Article
- Article
- Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.International journal of molecular sciences · 2024Article
- A 68-Year-Old Man with Depression and Acute Renal Failure Due to Rhabdomyolysis Associated with Alcohol Intoxication While Taking Low-Dose Escitalopram: A Case Report.The American journal of case reports · 2024Article
- The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.Molecular genetics and metabolism reports · 2024Article
- Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans.Genes · 2024Article
- Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2.Disease models & mechanisms · 2023Article
- Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeRhabdomyolysis is a medical emergency characterized by acute skeletal muscle breakdown with a sudden rise and subsequent fall of serum creatine kinase (CK) levels. Rhabdomyolysis events are provoked by exposure to external triggers, possibly in combination with an increased genetic susceptibility. We aimed to describe comprehensively the external triggers and potentially pathogenic genetic variants possibly implicated in increased rhabdomyolysis susceptibility.
methodsWe performed a retrospective single-center study, including a total of 1302 patients with an acute CK level exceeding 2000 IU/l.
resultsAnoxia was the most frequently reported trigger (40%). A subset of 193 patients were clinically suspected of an underlying genetic disorder (recurrent episodes, a positive family history, very high or persistently increased CK levels). In 72 of these patients, an unequivocal genetic defect was identified. A total of 22 genes with pathogenic variants were identified, including 52 different variants. Of those, 11 genes have been previously associated with rhabdomyolysis (ACADVL, ANO5, CPT2, DMD, DYSF, FKRP, HADHA, PGM1, LPIN1, PYGM, RYR1). Eleven genes are probably implicated in increased susceptibility (including AGL, CAPN3, CNBP, DMPK, MAGT1, ACADM, SCN4A, SGCA, SGCG, SMPD1, TANGO2).
conclusionThese findings suggest that the spectrum of genetic susceptibility for rhabdomyolysis has not yet been completely clarified. With the increasing availability of next-generation sequencing in a diagnostic setting, we expect that in more cases a genetic defect will be identified.
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