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[Mitochondrial encephalomyopathies].
Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 1995 L K, Hansen +3 more
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Mitochondrial Encephalomyopathies
Neurologic Clinics, 1990The mitochondrial diseases present with great heterogeneity. They are often multisystemic and vary considerably in age at onset, distribution of weakness, severity, and course. Only nonthyroidal hypermetabolism has a distinctive clinical presentation. Therefore, attempts at classification have generated some controversy.
S, DiMauro +5 more
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Mitochondrial Encephalomyopathies
Archives of Neurology, 1993Mitochondrial 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
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Mitochondrial Encephalomyopathies
Neurologic Clinics, 1988Mitochondrial encephalomyopathies are neurodegenerative disorders characterized by ragged-red myopathy and encephalopathy, which are recognized with increasing frequency. This article presents the clinical features; pertinent historical, biochemical, and genetic aspects; evaluation; and treatment of mitochondrial encephalomyopathies of childhood and ...
Chuan-Pu Lee, M E Martens, P L Peterson
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Mitochondrial encephalomyopathy
2023Mitochondrial dysfunction, especially perturbation of oxidative phosphorylation and adenosine triphosphate (ATP) generation, disrupts cellular homeostasis and is a surprisingly frequent cause of central and peripheral nervous system pathology. Mitochondrial disease is an umbrella term that encompasses a host of clinical syndromes and features caused by
Ng YS, McFarland R
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Mitochondrial Encephalomyopathies
Annals of the New York Academy of Sciences, 2004Abstract: 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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Mitochondrial Encephalomyopathies☆
2009Increasingly 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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Autophagy and Mitochondrial Encephalomyopathies
2020Mitochondrial 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 +2 more
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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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