Results 1 to 10 of about 182,656 (351)
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Physical Medicine and Rehabilitation Clinics of North America, 2003
Electrodiagnostic studies are an important adjunct to the clinical examination of a patient with a suspected myopathy; however, the clinical examination is crucial in making an accurate diagnosis, because electrodiagnostic studies have only a limited role in delineating with certainty the underlying myopathic disorder.
Jayashri, Srinivasan, Anthony A, Amato
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Electrodiagnostic studies are an important adjunct to the clinical examination of a patient with a suspected myopathy; however, the clinical examination is crucial in making an accurate diagnosis, because electrodiagnostic studies have only a limited role in delineating with certainty the underlying myopathic disorder.
Jayashri, Srinivasan, Anthony A, Amato
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Continuum, 2006
To discuss the clinical, laboratory, and histopathologic features and presumed pathogenic mechanisms of the four major categories of idiopathic inflammatory myopathy, namely dermatomyositis, polymyositis, immune-mediated necrotizing myopathy, and inclusion body myositis.Dermatomyositis, polymyositis, necrotizing myopathy, and inclusion body myositis ...
Anthony A, Amato, Steven A, Greenberg
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To discuss the clinical, laboratory, and histopathologic features and presumed pathogenic mechanisms of the four major categories of idiopathic inflammatory myopathy, namely dermatomyositis, polymyositis, immune-mediated necrotizing myopathy, and inclusion body myositis.Dermatomyositis, polymyositis, necrotizing myopathy, and inclusion body myositis ...
Anthony A, Amato, Steven A, Greenberg
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Current Opinion in Neurology, 2022
Purpose of review Oculopharyngodistal myopathy (OPDM) is a rare adolescent or adult-onset neuromuscular disease that is characterized by progressive ocular, facial, pharyngeal and distal limb muscle weakness. The rimmed vacuoles and intranuclear inclusions in myofibers constitute the pathological hallmark of OPDM.
Jiaxi, Yu, Jianwen, Deng, Zhaoxia, Wang
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Purpose of review Oculopharyngodistal myopathy (OPDM) is a rare adolescent or adult-onset neuromuscular disease that is characterized by progressive ocular, facial, pharyngeal and distal limb muscle weakness. The rimmed vacuoles and intranuclear inclusions in myofibers constitute the pathological hallmark of OPDM.
Jiaxi, Yu, Jianwen, Deng, Zhaoxia, Wang
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Current Rheumatology Reports, 2010
We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen ("aglycogenosis").
DiMauro S., Garone C., Naini A.
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We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen ("aglycogenosis").
DiMauro S., Garone C., Naini A.
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Current Opinion in Rheumatology, 1994
Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their
Zeviani M., Amati P., SAVOIA, ANNA
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Current Neurology and Neuroscience Reports, 2004
The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show ...
BRUNO C, MINETTI, CARLO
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The congenital myopathies encompass a group of neuromuscular disorders with characteristic morphologic abnormalities in skeletal muscle, including nemaline myopathy, central core disease, multi-minicore disease, and myotubular myopathy. Giant steps have been made in our understanding of the molecular bases of these disorders, all of which show ...
BRUNO C, MINETTI, CARLO
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Neurosurgery, 1979
This paper reviews the recent advances in our knowledge of muscle disease. The use of muscle biopsy for diagnosis is discussed. The etiology, pathogenesis, and treatment of polymyositis/dermatomyositis are considered. The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne ...
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This paper reviews the recent advances in our knowledge of muscle disease. The use of muscle biopsy for diagnosis is discussed. The etiology, pathogenesis, and treatment of polymyositis/dermatomyositis are considered. The author discusses the clinical patterns, inheritance, and pathogenesis of progressive muscular dystrophies, especially Duchenne ...
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Neurologic Clinics, 1988
AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well‐established conditions including central core myopathy and ...
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AbstractSeveral dozen congenital myopathies are defined by clinical and morphological criteria. The application of the current generation of scientific techniques including immunohistochemistry and molecular genetics has resulted in the expansion of our knowledge and understanding of the well‐established conditions including central core myopathy and ...
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2023
Distal myopathies are a group of genetic, primary muscle diseases. Patients develop progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet. Currently, over 20 different forms, presenting a variable age of onset, clinical presentation, disease progression, muscle involvement, and histological findings, are known.
Jokela Manu +8 more
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Distal myopathies are a group of genetic, primary muscle diseases. Patients develop progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet. Currently, over 20 different forms, presenting a variable age of onset, clinical presentation, disease progression, muscle involvement, and histological findings, are known.
Jokela Manu +8 more
openaire +3 more sources