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Mitochondrial myopathies and encephalomyopathies
European Journal of Clinical Investigation, 1999Defects of mitochondrial metabolism result in a wide variety of human disorders, which can present at any time from infancy to late adulthood and involve virtually any tissue either alone or in combination. Abnormalities of the electron transport and oxidative phosphorylation (OXPHOS) system are probably the most common cause of mitochondrial diseases.
A H, Schapira, H R, Cock
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Mitochondrial Encephalomyopathies
Annales de pathologie, 2006Mitochondrial encephalomyopathies include various syndromes involving both muscles and the nervous system. They are characterized by morphological and/or functional mitochondrial abnormalities. Relevant histological modifications in muscle are ragged-red fibers with or without cytochrome C oxidase (COX) activity.
Jacqueline, Mikol, Marc, Polivka
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Diagnosis of the mitochondrial encephalomyopathies
Current Opinion in Rheumatology, 1997In few fields of medicine has recent progress been as fast and exciting as in the area of mitochondrial diseases. Although the clinical manifestations of mitochondrial dysfunction are extremely variable, biochemical and genetic classification of these disorders is now possible and recent advances in morphologic analysis and genetic testing aid in the ...
S, Shanske, S, DiMauro
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Mitochondrial encephalomyopathy
Neuropathology, 2000Mitochondrial encephalomyopathy is a disease based on multisystemic mitochondrial dysfunction. Pathologic, biochemical and molecular genetic approaches to the disease have revealed the complex features of the phenotype and its relationship to the genotype.
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Mitochondrial encephalomyopathy
Neurology, 1984We describe a 29-year-old man with mitochondrial encephalomyopathy. The patient's disorder was characterized by lactic acidosis, hemiparesis, seizures, aphasia, and hemianopia. CT revealed low-density areas that corresponded to the symptoms. His 56-year-old mother is also involved subclinically, demonstrating that muscle biopsy is an important ...
T, Yamamoto, H, Beppu, T, Tsubaki
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Mitochondrial encephalomyopathies
Current Opinion in Neurology, 1998It is nearly a decade since the discovery of the first mutations in mitochondrial DNA associated with mitochondrial encephalomyopathy, and the pace of discovery of new mitochondrial DNA mutations continues unabated. Nuclear gene defects in these disorders have been more difficult to identify; only one is known, but others have been mapped by linkage ...
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Mitochondrial encephalomyopathies
2010Abstracts and keywords to be supplied.
P F Chinnery, D M Turnbull
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Mitochondrial Encephalomyopathy
Archives of Neurology, 1987A 17-year-old patient had a progressive hypokinetic-rigid syndrome and several other signs and symptoms that indicated central nervous system involvement. Biochemical studies revealed a reduced form of nicotinamide-adenine dinucleotide dehydrogenase deficiency in skeletal muscle.
P M, van Erven +4 more
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Mitochondrial encephalomyopathies: therapeutic approaches
Neurological Sciences, 2000Therapy of mitochondrial encephalomyopathies (defined restrictively as defects of the mitochondrial respiratory chain) is woefully inadequate, despite great progress in our understanding of the molecular bases of these disorders. We review available and experimental therapeutic approaches, which fall into seven categories: (1) palliative therapy; (2 ...
S, DiMauro, M, Hirano, E A, Schon
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Neuropsychological status of mitochondrial encephalomyopathies
European Journal of Neurology, 1995We studied 15 patients suffering from mitochondrial encephalomyopathies (MEM) by a neuropsychological screening procedure. Eight of the patients were diagnosed as having progressive external ophthalmoplegia (PEO), four mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes (MELAS), and three Kearns‐Sayre syndrome (KSS).
C J, Lang +6 more
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