ArticleBrain : a journal of neurology2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene.
Article in Brain : a journal of neurology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 132 papers, 3 of them syntheses that pooled it.
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132 citing papers in PubMed, 3 syntheses or guidelines pooled it, 318 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- The efficacy of coenzyme QJournal of cellular and molecular medicine · 2022Pooled it
- Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease.International journal of molecular sciences · 2026Article
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Case Report: Pediatric nephrology-expanding the genotypic spectrum ofFrontiers in medicine · 2026Article
- Adolescent late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency manifesting with severe multi-organ failure: a case report.Frontiers in pediatrics · 2025Article
- Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency.Acta neuropathologica · 2024Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview.Antioxidants (Basel, Switzerland) · 2024Review
- Optimizing metabolism is a complex issue.Nature metabolism · 2024Article
- An ETFDH-driven metabolon supports OXPHOS efficiency in skeletal muscle by regulating coenzyme Q homeostasis.Nature metabolism · 2024Article
- Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.Orphanet journal of rare diseases · 2024Article
- A clinical approach to diagnosis and management of mitochondrial myopathies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.Nutrition & metabolism · 2023Review
- Low-dose vanadium pentoxide perturbed lung metabolism associated with inflammation and fibrosis signaling in male animal and in vitro models.American journal of physiology. Lung cellular and molecular physiology · 2023Article
- Biosynthesis, Deficiency, and Supplementation of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023Review
- Review
- Coenzyme Q10: Role in Less Common Age-Related Disorders.Antioxidants (Basel, Switzerland) · 2022Review
72 more citing papers are in PubMed but not listed here.
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16 authors at 5 institutions in 3 countries.
Funding
Abstract
Coenzyme Q10 (CoQ10) deficiency is an autosomal recessive disorder with heterogenous phenotypic manifestations and genetic background. We describe seven patients from five independent families with an isolated myopathic phenotype of CoQ10 deficiency. The clinical, histological and biochemical presentation of our patients was very homogenous. All patients presented with exercise intolerance, fatigue, proximal myopathy and high serum CK. Muscle histology showed lipid accumulation and subtle signs of mitochondrial myopathy. Biochemical measurement of muscle homogenates showed severely decreased activities of respiratory chain complexes I and II + III, while complex IV (COX) was moderately decreased. CoQ10 was significantly decreased in the skeletal muscle of all patients. Tandem mass spectrometry detected multiple acyl-CoA deficiency, leading to the analysis of the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene, previously shown to result in another metabolic disorder, glutaric aciduria type II (GAII). All of our patients carried autosomal recessive mutations in ETFDH, suggesting that ETFDH deficiency leads to a secondary CoQ10 deficiency. Our results indicate that the late-onset form of GAII and the myopathic form of CoQ10 deficiency are allelic diseases. Since this condition is treatable, correct diagnosis is of the utmost importance and should be considered both in children and in adults. We suggest to give patients both CoQ10 and riboflavin supplementation, especially for long-term treatment.
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