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Current Opinion in Rheumatology, 1994
Metabolic myopathies are disorders of muscle energy production that result in skeletal muscle dysfunction. Cardiac and systemic metabolic dysfunction may coexist. Symptoms are often intermittent and provoked by exercise or changes in supply of lipid and carbohydrate fuels.
A, Martin, R G, Haller, R, Barohn
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Metabolic myopathies are disorders of muscle energy production that result in skeletal muscle dysfunction. Cardiac and systemic metabolic dysfunction may coexist. Symptoms are often intermittent and provoked by exercise or changes in supply of lipid and carbohydrate fuels.
A, Martin, R G, Haller, R, Barohn
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Seminars in Pediatric Neurology, 1996
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies among the fatty acid ...
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Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehydrogenase (LCAD, VLCAD), and trifunctional enzyme deficiencies among the fatty acid ...
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Continuum, 2008
Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose
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Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose
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Apoptosis in metabolic myopathies
NeuroReport, 1998DNA fragmentation, the hallmark of apoptosis, has been recently investigated with contradictory results in several skeletal muscle disorders. Using in situ labeling of nuclear DNA fragmentation, we have tested the possibility that apoptosis might occur in muscles from patients with mitochondrial respiratory chain defects and other types of metabolic ...
MONICI MC +5 more
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Investigation of metabolic myopathies
2007No description ...
Robert Taylor +2 more
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Hereditary Metabolic Myopathies
1985There are nine known hereditary enzyme defects of glycogen metabolism and glycolysis affecting skeletal muscle. “Metabolic myopathie” can be classified into two main groups: 1. Deficiencies of enzymes that occur in single molecular forms which are already present in fetal tissues and continue to be synthesized throughout life.
Miranda AF +2 more
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Pathology - Research and Practice, 1985
The most frequent metabolic myopathies of children and adults (glycogenoses; neutral fat myopathies; "mitochondrial" myopathies) are reviewed. In glycogenoses and neutral fat myopathies the most prominent histological feature is represented by a vacuolation of muscle fibres, vacuoles being filled with glycogen or neutral fat.
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The most frequent metabolic myopathies of children and adults (glycogenoses; neutral fat myopathies; "mitochondrial" myopathies) are reviewed. In glycogenoses and neutral fat myopathies the most prominent histological feature is represented by a vacuolation of muscle fibres, vacuoles being filled with glycogen or neutral fat.
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Mitochondrial and Metabolic Myopathies
Continuum, 2019This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on those syndromes and diseases associated with myopathy.
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Revista de neurologia, 2014
To review the metabolic myopathies manifested only by crisis of myalgias, cramps and rigidity of the muscles with decreased voluntary contractions and normal inter crisis neurologic examination in children and adolescents.These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. The
Óscar, Papazian, Rafael, Rivas-Chacón
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To review the metabolic myopathies manifested only by crisis of myalgias, cramps and rigidity of the muscles with decreased voluntary contractions and normal inter crisis neurologic examination in children and adolescents.These metabolic myopathies are autosomic recessive inherited enzymatic deficiencies of the carbohydrates and lipids metabolisms. The
Óscar, Papazian, Rafael, Rivas-Chacón
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Metabolic neuropathies and myopathies
2013Inborn errors of metabolism may impact on muscle and peripheral nerve. Abnormalities involve mitochondria and other subcellular organelles such as peroxisomes and lysosomes related to the turnover and recycling of cellular compartments. Treatable causes are β-oxidation defects producing progressive neuropathy; pyruvate dehydrogenase deficiency ...
Adele, D'Amico, Enrico, Bertini
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