Results 11 to 20 of about 371,748 (188)
Pathology of Mitochondrial Encephalomyopathies [PDF]
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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Mitochondrial Encephalomyopathies
Archives of Neurology, 1993 Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA) and are capable of synthesizing a small but vital set of proteins, all of which are components of respiratory chain complexes.
S, DiMauro, C T, Moraes
core +6 more sources
Mitochondrial Encephalomyopathies
Annals of the New York Academy of Sciences, 2004 Abstract: Therapy for mitochondrial diseases is woefully inadequate. How‐ever, lack of cure does not equate with lack of treatment. In this review, we consider sequentially several different therapeutic approaches. Palliative therapy is dictated by good medical practice and includes anticonvulsant medication, control of endocrine dysfunction, and ...
DiMauro S., Mancuso M., Naini A.
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Modeling mitochondrial encephalomyopathy in Drosophila [PDF]
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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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
openaire +3 more sources
Association of a Homozygous TYMP c.131G>C Variant With MNGIE in a Chinese Pedigree: Insights From Genetic Analysis and Computational Modeling. [PDF]
Mol Genet Genomic MedResearcher highlight: Extending beyond the recently reported compound heterozygous case, we report the same TYMP c.131G>C variant in a homozygous configuration, delivering key genetic evidence for its standalone pathogenicity in MNGIE. ABSTRACT Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder ...
Li L +6 more
europepmc +2 more sources
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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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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Mapping gene associations in human mitochondria using clinical disease phenotypes [PDF]
, 2009 Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical ...
Curt Scharfe +22 more
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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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