Results 1 to 10 of about 151,735 (166)
Aortic root ectasia as a phenotypic feature of a mitochondrial disorder [PDF]
Clinical Case Reports, 2018 Key Clinical Message Mitochondrial disorder (MID) can be suspected upon application of the mitochondrial multiorgan disorder syndrome score; aortic root ectasia (ARE) can be a phenotypic feature of MIDs; ARE in a MID may result from affection of vascular
Josef Finsterer
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Japanese Journal of Human Genetics, 1997 In this minireview, we attempt to survey the three main group of mitochondrial disorders, defects of nuclear DNA, defects of mitochondrial DNA, and defects of intergenomic signaling, with emphasis on recent contributions and pathogenetic mechanisms. In so doing, we have tried to point out some of the numerous unsolved problems in genotype/phenotype ...
S, DiMauro, K, Tanji
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Deutsches Ärzteblatt international, 2021 Mitochondrial disorders are among the most common heritable diseases, with an overall lifetime risk of approximately one in 1500. Nonetheless, their diagnosis is often missed because of their extreme phenotypic and genotypic heterogeneity.This review is based on publications retrieved by a selective literature search on the clinical features, genetics,
Klopstock, T. +5 more
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Leber’s hereditary optic neuropathy: Update on current diagnosis and treatment
Frontiers in Ophthalmology, 2023 Leber’s hereditary optic neuropathy (LHON) is a fairly prevalent mitochondrial disorder (1:50,000) arising from the dysfunction of the mitochondrial respiratory chain, which eventually leads to apoptosis of retinal ganglion cells.
Ali Esmaeil, Ali Ali, Raed Behbehani
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Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders
Current Issues in Molecular Biology, 2022 Mitochondria are major contributors to ATP synthesis, generating more than 90% of the total cellular energy production through oxidative phosphorylation (OXPHOS): metabolite oxidation, such as the β-oxidation of fatty acids, and the Krebs’s cycle. OXPHOS
Shafi Mahmud +12 more
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Anesthetic Considerations in Patients with Mitochondrial Disorders
Indonesian Journal of Anesthesiology and Reanimation (IJAR), 2023 Introduction: Mitochondrial Disorders (1/4,000 patients) are rare and caused by dysfunctional mitochondria. Anesthetic consideration in patients with Mitochondrial Disorders involves careful preoperative and perioperative observations.
Ziske Maritska +7 more
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Annals of Indian Academy of Neurology, 2023 Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart.
Vykuntaraju K Gowda +4 more
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Annals of Translational Medicine, 2018 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 ...
Shibani, Kanungo +5 more
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Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report
Frontiers in Medicine, 2022 The T12811C mitochondrial DNA (mtDNA) mutation has been reported in Leber hereditary optic neuropathy (LHON) previously, with vision loss as the main manifestation.
Qingdan Xu +10 more
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The Ginsenoside Rg1 Rescues Mitochondrial Disorders in Aristolochic Acid-Induced Nephropathic Mice
Life, 2021 Chronic exposure to aristolochic acid (AA) leads to renal interstitial fibrosis and nephropathy. In this study, we aimed to investigate the renoprotective effects of Panax ginseng extract (GE) and ginsenoside saponin (GS) on AA-induced nephropathy (AAN ...
Chu-Kuang Chou +5 more
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