ArticleMolecular genetics and metabolism reports2018
Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis.
Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 20 citations in OpenAlex.
- Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.International journal of molecular sciences · 2024Article
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- Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.Molecules (Basel, Switzerland) · 2022Review
- Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.The Journal of general physiology · 2022Review
- Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?Journal of inherited metabolic disease · 2021Article
- Rhabdomyolysis: Revisited.The Ulster medical journal · 2021Review
- Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome.Frontiers in cell and developmental biology · 2021Article
- Exertional rhabdomyolysis in a 21-year-old healthy man resulting from lower extremity training: A case report.Medicine · 2019Article
- Synergistic heterozygosities beyond energy-related metabolic pathways as the mechanism of recurrent rhabdomyolysis.Molecular genetics and metabolism reports · 2019Article
- Diagnosing rare diseases after the exome.Cold Spring Harbor molecular case studies · 2018Review
- Response to Finsterer and Zarrouk-Mahjoub.Molecular genetics and metabolism reports · 2018Article
- Whole exome sequencing may be insufficient to cover the causality spectrum of rhabdomyolysis.Molecular genetics and metabolism reports · 2018Article
- A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.Journal of ophthalmic & vision researchArticle
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Exertional rhabdomyolysis is a metabolic event characterized by the release of muscle content into the circulation due to exercise-driven breakdown of skeletal muscle. Recurrent exertional rhabdomyolysis has been associated with metabolic myopathies and mitochondrial disorders, a clinically and genetically heterogeneous group of predominantly autosomal recessive, monogenic conditions. Although genetics factors are well recognized in recurrent rhabdomyolysis, the underlying causes and mechanisms of exercise-driven muscle breakdown remain unknown in a substantial number of cases. We present clinical and genetic study results from seven adult male subjects with recurrent exertional rhabdomyolysis. In all subject, whole exome sequencing identified multiple heterozygous variants in genes associated with monogenic metabolic and/or mitochondrial disorders. These variants consisted of known pathogenic and/or new likely pathogenic variants in combination with other rare deleterious alleles. The presence of heterozygous pathogenic and rare deleterious variants in multiple genes suggests an oligogenic inheritance for exertional rhabdomyolysis etiology. Our data imply that exertional rhabdomyolysis can reflect cumulative effects or synergistic interactions of deleterious variants in multiple genes that are likely to compromise muscle metabolism under the stress of exercise.
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