Results 171 to 180 of about 8,951 (213)

Mitochondrial Encephalomyopathies☆

2009
Increasingly numerous studies are being devoted to mitochondrial diseases, notably those which involve the neuromuscular system. Our knowledge and understanding of these diseases is progressing rapidly. We owe to Luft et al. (1962) the first description of this type of diseases.
A, Lombes, E, Bonilla, S, Dimauro
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Mitochondrial encephalomyopathy

Neuropathology, 2000
Mitochondrial 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 encephalomyopathies

Current Opinion in Neurology, 1998
It 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].

Annales de pathologie, 2006
Mitochondrial 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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Autophagy and Mitochondrial Encephalomyopathies

2020
Mitochondrial encephalomyopathies are a group of disorders affecting skeletal muscles and brain. Although the symptoms vary among these disorders, mitochondrial DNA mutation or loss is the common characteristic. The abnormality of mitochondrial genome usually causes the dysfunction of mitochondrial respiratory and even mitochondrial damage.
Xiangnan, Zhang, Yanrong, Zheng, Zhong, Chen   +2 more
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[Mitochondrial encephalomyopathy].

Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1990
Modern concepts regarding mitochondrial encephalomyopathies (ME) are summarized. Utilizing recent techniques of molecular biology we studied some cases of ME referred to the Institute of Clinical Neurology of Milan University. With these techniques we demonstrated different mitochondrial DNA deletions either in patients' muscle or in culture.
T, Ozawa, M, Tanaka
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Mitochondrial encephalomyopathies: an update

Neuromuscular Disorders, 2005
A genetic classification of the mitochondrial encephalomyopathies includes disorders due to defects of mitochondrial DNA (mtDNA) and disorders due to defects of nuclear DNA (nDNA). Recent progress in mtDNA-related diseases includes: (i) new pathogenic mutations in protein-coding genes, especially those encoding subunits of complex I (ND genes); (ii ...
Salvatore, DiMauro, Michio, Hirano
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Mitochondrial encephalomyopathies: therapeutic approaches

Neurological Sciences, 2000
Therapy 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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Mitochondrial myopathies and encephalomyopathies

European Journal of Clinical Investigation, 1999
Defects 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 encephalomyopathy

Neurology, 1984
We 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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