ReviewJournal of clinical medicine2017
Myopathology of Adult and Paediatric Mitochondrial Diseases.
Review in Journal of clinical medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed.
- Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.Disease models & mechanisms · 2026Review
- Distal Agrin (AGRN) Congenital Myasthenic Syndrome With Mitochondrial Dysfunction.European journal of neurology · 2026Article
- Rhabdomyolysis in Children: A State-of-the-Art Review.Children (Basel, Switzerland) · 2025Review
- Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.The Journal of clinical investigation · 2023Article
- The Emerging Role of Mitochondrial Dysfunction in the Pathogenesis of Idiopathic Inflammatory Myopathies.Rambam Maimonides medical journal · 2023Review
- Pathological Features in Paediatric Patients with TK2 Deficiency.International journal of molecular sciences · 2022Article
- Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.Molecular genetics & genomic medicine · 2022Review
- Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).Molecular genetics and metabolism · 2022Review
- Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders.Current issues in molecular biology · 2022Review
- "Empowering" Cardiac Cells via Stem Cell Derived Mitochondrial Transplantation- Does Age Matter?International journal of molecular sciences · 2021Review
- The Dimensions of Primary Mitochondrial Disorders.Frontiers in cell and developmental biology · 2020Review
- Molecular Basis for the Therapeutic Effects of Exercise on Mitochondrial Defects.Frontiers in physiology · 2020Review
- A conditional mouse model of complex II deficiency manifesting as Leigh-like syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.Journal of clinical medicine · 2019Article
- Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.Molecular genetics and metabolism reports · 2018Article
- Cognitive impairment in neuromuscular diseases: A systematic review.Neurology international · 2018Article
- Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.Journal of human genetics · 2018Article
- Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.Journal of clinical medicine · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondria are dynamic organelles ubiquitously present in nucleated eukaryotic cells, subserving multiple metabolic functions, including cellular ATP generation by oxidative phosphorylation (OXPHOS). The OXPHOS machinery comprises five transmembrane respiratory chain enzyme complexes (RC). Defective OXPHOS gives rise to mitochondrial diseases (mtD). The incredible phenotypic and genetic diversity of mtD can be attributed at least in part to the RC dual genetic control (nuclear DNA (nDNA) and mitochondrial DNA (mtDNA)) and the complex interaction between the two genomes. Despite the increasing use of next-generation-sequencing (NGS) and various omics platforms in unravelling novel mtD genes and pathomechanisms, current clinical practice for investigating mtD essentially involves a multipronged approach including clinical assessment, metabolic screening, imaging, pathological, biochemical and functional testing to guide molecular genetic analysis. This review addresses the broad muscle pathology landscape including genotype-phenotype correlations in adult and paediatric mtD, the role of immunodiagnostics in understanding some of the pathomechanisms underpinning the canonical features of mtD, and recent diagnostic advances in the field.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.