Results 1 to 10 of about 76 (76)
Diagnostics, 2021 Mitochondrial encephalomyopathies (MEMP) are heterogeneous multisystem disorders frequently associated with mitochondrial DNA (mtDNA) mutations. Clinical presentation varies considerably in age of onset, course, and severity up to death in early ...
Phepy G. A. Dawod +11 more
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Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants. [PDF]
PLoS ONE, 2007 BACKGROUND: Mitochondrial encephalomyopathies are a heterogeneous group of clinical disorders generally caused due to mutations in either mitochondrial DNA (mtDNA) or nuclear genes encoding oxidative phosphorylation (OXPHOS).
Aijaz A Wani +8 more
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Clinical Value of Magnetic Resonance Spectroscopy in the Initial Evaluation of Patients with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes [PDF]
Annals of Child Neurology, 2021 Purpose Magnetic resonance spectroscopy (MRS) is a diagnostic tool used to detect abnormal accumulation of lactate in the brain parenchyma in various metabolic diseases.
Hyunjoo Lee +3 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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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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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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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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Pathology of Mitochondrial Encephalomyopathies
Pediatric Neurology Briefs, 2005 The role of the muscle biopsy, histochemistry, electronmicroscopy, measurement of respiratory chain enzymes, and genetic studies in the diagnosis of mitochondrial cytopathies (MC) is reviewed by researchers at the University of Calgary and Alberta ...
J Gordon Millichap
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Encefalomiopatias mitocondriais.
Acta Médica Portuguesa, 1994 Mitochondrial Encephalomyopathies are primary disorders of energy metabolism recently described. They are the result of mitochondrial abnormalities with a wide spectrum of syndromes implying a multisystemic but predominantly muscular and cerebral ...
R Almeida, A Sena, M Gonçalves
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Modeling mitochondrial encephalomyopathy in Drosophila
Neurobiology of Disease, 2010 Mitochondrial encephalomyopathies are disturbingly complex and devastating diseases, reflecting the underlying importance of the affected organelle.
Michael J. Palladino
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