Mitochondrial Encephalomyopathies: Incidence & DNA
Pediatric Neurology Briefs, 2001 The incidence, mortality, clinical features and DNA abnormalities of mitochondrial encephalomyopathies (ME) were evaluated in a population-based study of children from western Sweden conducted at The Queen Silvia Children’s Hospital, Goteborg, Sweden.
J Gordon Millichap
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Structural basis for late maturation steps of mitochondrial respiratory chain complex IV within the human respirasome [PDF]
Nature CommunicationsThe mitochondrial respiratory chain comprises four multimeric complexes (CI-CIV) that drive oxidative phosphorylation by transferring electrons to oxygen and generating the proton gradient required for ATP synthesis.
Minh Duc Nguyen +6 more
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Mitochondrial Encephalomyopathies [PDF]
Brain Pathology, 1992 Salvatore DiMauro
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Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features. [PDF]
Eur J NeurolABSTRACT Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (TYMP), primarily characterized by severe gastrointestinal and neurological symptoms.
Capece G +13 more
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Mitochondrial encephalomyopathies [PDF]
Journal of Neuropathology & Experimental Neurology, 2003 Mitochondrial encephalomyopathies are diseases caused by defective oxidative phosphorylation (OXPHOS), and affect the nervous system and/or skeletal muscle. They have emerged as a major entity among the neurometabolic diseases of childhood with an incidence of 1 in 11,000 children, and also have a high prevalence in adults.
Anders, Oldfors, Már, Tulinius
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Introduction: mitochondrial encephalomyopathies. [PDF]
Brain Pathol, 2000 DiMauro S.
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BioMedica, 2021 Background and Objective: Mitochondrial encephalomyopathies represent a clinically heterogeneous group of disorders resulting from abnormal mitochondrial function.
Hai-ping Xia +5 more
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Potentially Diagnostic Electron Paramagnetic Resonance Spectra Elucidate the Underlying Mechanism of Mitochondrial Dysfunction in the Deoxyguanosine Kinase Deficient Rat Model of a Genetic Mitochondrial DNA Depletion Syndrome [PDF]
, 2016 A novel rat model for a well-characterized human mitochondrial disease, mitochondrial DNA depletion syndrome with associated deoxyguanosine kinase (DGUOK) deficiency, is described.
Bennett, Brian +8 more
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Mitochondrial myopathies: current diagnosis (I) [PDF]
Romanian Journal of Neurology, 2010 Mitochondrial diseases can present at any age and include a combination of multisystemic symptoms. Major manifestations of muscle involvement include infantile hypotonia, weakness, and lactic acidosis; severe exercise intolerance and easy fatigability ...
Tudor Rasanu +5 more
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NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms
Genetics and Molecular Biology, 2021 Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes.
Vanessa Zanette +7 more
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