Results 221 to 230 of about 31,118 (262)
Some of the next articles are maybe not open access.
Annals of Neurology, 1985
AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S. +4 more
openaire +2 more sources
AbstractMitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria.
DiMauro S. +4 more
openaire +2 more sources
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 ...
openaire +3 more sources
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 ...
openaire +3 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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 ...
openaire +3 more sources
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 ...
openaire +3 more sources
Journal of Neurology, 2019
Scleromyxedema is a chronic, idiopathic disorder associated with monoclonal gammopathy, and characterized by dermal mucin deposition. However, systemic manifestations are frequent, including neuromuscular symptoms. We herein present a 71-year-old man who developed a vacuolar myopathy in a context of a known scleromyxedema, and we compare our ...
Antoine Soulages +9 more
openaire +2 more sources
Scleromyxedema is a chronic, idiopathic disorder associated with monoclonal gammopathy, and characterized by dermal mucin deposition. However, systemic manifestations are frequent, including neuromuscular symptoms. We herein present a 71-year-old man who developed a vacuolar myopathy in a context of a known scleromyxedema, and we compare our ...
Antoine Soulages +9 more
openaire +2 more sources
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 ...
openaire +2 more sources
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 ...
openaire +2 more sources
2013
Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor ...
Norma Beatriz, Romero, Nigel F, Clarke
openaire +2 more sources
Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor ...
Norma Beatriz, Romero, Nigel F, Clarke
openaire +2 more sources
Annals of Internal Medicine, 1987
Excerpt To the editor: Graves disease with ophthalmopathy was diagnosed in a 37-year-old woman. Treatment consisted of propranolol, 20 mg three times a day, propylthiouracil, 100 mg three times a d...
Noppen, Marc +4 more
openaire +2 more sources
Excerpt To the editor: Graves disease with ophthalmopathy was diagnosed in a 37-year-old woman. Treatment consisted of propranolol, 20 mg three times a day, propylthiouracil, 100 mg three times a d...
Noppen, Marc +4 more
openaire +2 more sources
The Lancet, 1970
Abstract Clinical, biochemical, electromyographic, and pathological studies of neuromuscular function were carried out in a group of eleven acromegalics. Mild proximal muscle weakness was present in six cases and serum-levels of creatine phosphokinase were elevated in five.
Mastaglia, F.L., Barwick, D.D., Hall, R.
openaire +2 more sources
Abstract Clinical, biochemical, electromyographic, and pathological studies of neuromuscular function were carried out in a group of eleven acromegalics. Mild proximal muscle weakness was present in six cases and serum-levels of creatine phosphokinase were elevated in five.
Mastaglia, F.L., Barwick, D.D., Hall, R.
openaire +2 more sources
2011
Myofibrillar myopathies (MFMs) represent a group of muscular dystrophies with a similar morphological phenotype. The diagnosis is established by muscle biopsy. The MFMs are characterized by a distinct pathological pattern of myofibrillar dissolution associated with disintegration of the Z-disk, accumulation of myofibrillar degradation products, and ...
Duygu, Selcen, Andrew G, Engel
openaire +2 more sources
Myofibrillar myopathies (MFMs) represent a group of muscular dystrophies with a similar morphological phenotype. The diagnosis is established by muscle biopsy. The MFMs are characterized by a distinct pathological pattern of myofibrillar dissolution associated with disintegration of the Z-disk, accumulation of myofibrillar degradation products, and ...
Duygu, Selcen, Andrew G, Engel
openaire +2 more sources