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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
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Seminars in Pediatric Neurology, 1991
About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
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About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions.
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Best Practice & Research Clinical Rheumatology, 1995
New information regarding myositis specific autoantibodies, histopathologic analysis of muscle biopsy specimens, and immunogenetic features of the different serologic subsets of disease has greatly increased our understanding of the pathogenesis of the inflammatory myopathies.
C V, Oddis, T A, Medsger
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New information regarding myositis specific autoantibodies, histopathologic analysis of muscle biopsy specimens, and immunogenetic features of the different serologic subsets of disease has greatly increased our understanding of the pathogenesis of the inflammatory myopathies.
C V, Oddis, T A, Medsger
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Current Opinion in Rheumatology, 2009
It has been recognized for some time now, that compared with the normal population, patients with idiopathic inflammatory myopathies (IIM) live with an increased risk of developing malignancy. In the majority of these patients, cancer-associated myositis appears to have some paraneoplastic features. The aim of the present review is to describe new data
Dankó, Katalin +4 more
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It has been recognized for some time now, that compared with the normal population, patients with idiopathic inflammatory myopathies (IIM) live with an increased risk of developing malignancy. In the majority of these patients, cancer-associated myositis appears to have some paraneoplastic features. The aim of the present review is to describe new data
Dankó, Katalin +4 more
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Revue Neurologique, 2013
Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Distal myopathies are a heterogeneous group of genetic disorders characterized clinically by progressive muscular weakness and atrophy beginning in the hands or feet, and pathologically by myopathic changes in skeletal muscles. Five distinct distal myopathies are identified, among them four have been recently defined by their gene and causative ...
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Current Neurology and Neuroscience Reports, 2007
Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle ...
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Advanced molecular genetic possibilities have made it possible to clarify and delineate an ever growing number of distinct new disease entities in the group of distal myopathies. These diseases share the clinical features of preferential muscle weakness in the feet and/or hands, and as they are genetic disorders that lead to progressive loss of muscle ...
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Acta Clinica Belgica, 2004
Primary myositis (or inflammatory myopathies) comprises three main groups of diseases, based on clinical and immunohistochemical characteristics: polymyositis (PM), dermatomyositis (DM) and inclusion body myositis. Their clinical presentation and course are disparate, but a common characteristic is immune dysfunction-related inflammation of the ...
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Primary myositis (or inflammatory myopathies) comprises three main groups of diseases, based on clinical and immunohistochemical characteristics: polymyositis (PM), dermatomyositis (DM) and inclusion body myositis. Their clinical presentation and course are disparate, but a common characteristic is immune dysfunction-related inflammation of the ...
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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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Journal of the Neurological Sciences, 1981
Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete ...
F, Mechler +3 more
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Six clinically affected and 18 asymptomatic members of a six-generation family were investigated clinically, by estimation of serum CK levels, and in some cases by quantitative electromyographic techniques and muscle biopsy. It was concluded that the myopathy was probably inherited as an autosomal dominant trait with variable expression and incomplete ...
F, Mechler +3 more
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