ReviewAnnals of translational medicine2018
Mitochondrial disorders.
Review in Annals of translational medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.Neurogenetics · 2025Pooled it
- Sequential development of three syndromes in a patient with m.3243A>G mutation: a case report.Frontiers of medicine · 2025Article
- Novel Variants in Sperm Mitochondrial Cytochrome C Oxidase II (Current issues in molecular biology · 2025Article
- Mitochondrial complex-1 as a therapeutic target for cardiac diseases.Molecular and cellular biochemistry · 2025Review
- Preclinical models of mitochondrial dysfunction: mtDNA and nuclear-encoded regulators in diverse pathologies.Frontiers in aging · 2025Review
- Diagnostic accuracy of the lactate stress test for detecting mitochondrial disorders: Systematic review and meta-analysis.Heliyon · 2024Article
- Leigh Syndrome due toMolecular syndromology · 2024Article
- Mitochondria in health, disease, and aging.Physiological reviews · 2023Review
- Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases.Journal of personalized medicine · 2023Article
- A Multi-Dimensional Model of Fatigue in Old Age: Implications for Brain Aging.The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry · 2023Article
- The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases.Journal of lasers in medical sciences · 2023Review
- Gut dysmotility in children with neurological impairment: the nutritional management.Frontiers in neurology · 2023Review
- Current advances in gene therapy of mitochondrial diseases.Journal of translational medicine · 2022Review
- Review
- Recent advances in mitochondrial diseases: From molecular insights to therapeutic perspectives.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022Review
- Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations.Journal of cardiovascular development and disease · 2022Article
- Pattern Recognition in Mitochondrial Leukodystrophies is Hampered by the Peculiarities of Mitochondrial Genetics.AJNR. American journal of neuroradiology · 2022Article
- Mitochondrial protein dysfunction in pathogenesis of neurological diseases.Frontiers in molecular neuroscience · 2022Review
- Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A>G.Case reports in neurological medicine · 2022Article
- Mitochondrial mutations in protein coding genes of respiratory chain including complexes IV, V, and mt-tRNA genes are associated risk factors for congenital heart disease.EXCLI journal · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary mitochondrial disorders are a group of clinically variable and heterogeneous inborn errors of metabolism (IEMs), resulting from defects in cellular energy, and can affect every organ system of the body. Clinical presentations vary and may include symptoms of fatigue, skeletal muscle weakness, exercise intolerance, short stature, failure to thrive, blindness, ptosis and ophthalmoplegia, nystagmus, hearing loss, hypoglycemia, diabetes mellitus, learning difficulties, intellectual disability, seizures, stroke-like episodes, spasticity, dystonia, hypotonia, pain, neuropsychiatric symptoms, gastrointestinal reflux, dysmotility, gastrointestinal pseudo-obstruction, cardiomyopathy, cardiac conduction defects, and other endocrine, renal, cardiac, and liver problems. Most phenotypic manifestations are multi-systemic, with presentations varying at different age of onset and may show great variability within members of the same family; making these truly complex IEMs. Most primary mitochondrial diseases are autosomal recessive (AR); but maternally-inherited [from mitochondrial (mt) DNA], autosomal dominant and X-linked inheritance are also known. Mitochondria are unique energy-generating cellular organelles, geared for survival and contain their own unique genetic coding material, a circular piece of mtDNA about 16,000 base pairs in size. Additional nuclear (n)DNA encoded genes maintain mitochondrial biogenesis by supervising mtDNA replication, repair and synthesis, which is modified during increased energy demands or physiological stress. Despite our growing knowledge of the hundreds of genetic etiologies for this group of disorders, diagnosis can also remain elusive due to unique aspects of mitochondrial genetics. Though cure and FDA-approved therapies currently elude these IEMs, and current suggested therapies which include nutritional supplements and vitamins are of questionable efficacy; multi-center, international clinical trials are in progress for primary mitochondrial disorders.
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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.