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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
Journal of Neurology, 2000
Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; late adult onset type 2, or Markesbery-Griggs/Udd myopathy, autosomal ...
ANGELINI, CORRADO +3 more
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Distal myopathies are classified according to clinical, histopathological, and genetic patterns into the following: late adult onset type 1, or Welander myopathy, the first recognized distal myopathy with autosomal dominant inheritance and very recently linked to chromosome 2p; late adult onset type 2, or Markesbery-Griggs/Udd myopathy, autosomal ...
ANGELINI, CORRADO +3 more
openaire +4 more sources
Seminars in Neurology, 1999
Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement. Accurate diagnosis of these relatively uncommon conditions can be challenging for the clinician, because of both the unusual phenotype
R J, Barohn, A A, Amato
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Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement. Accurate diagnosis of these relatively uncommon conditions can be challenging for the clinician, because of both the unusual phenotype
R J, Barohn, A A, Amato
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Current Opinion in Neurology, 2005
The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients.Publications over the past 5 years describe a number of new clinical phenotypes and ...
Mastaglia, F.L. +2 more
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The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients.Publications over the past 5 years describe a number of new clinical phenotypes and ...
Mastaglia, F.L. +2 more
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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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Current Opinion in Neurology, 2001
Distal myopathies are frequently encountered in the Nordic countries, and are now being increasingly recognized elsewhere. Three new descriptions of distal myopathy phenotypes have been published in the past year. At the same time there has been considerable progress in molecular genetics and in understanding the molecular pathophysiology underlying ...
B, Udd, R, Griggs
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Distal myopathies are frequently encountered in the Nordic countries, and are now being increasingly recognized elsewhere. Three new descriptions of distal myopathy phenotypes have been published in the past year. At the same time there has been considerable progress in molecular genetics and in understanding the molecular pathophysiology underlying ...
B, Udd, R, Griggs
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Neurologic Clinics, 2020
The distal myopathies are a rare and heterogeneous group of neuromuscular disorders. Patients present with weakness of the hands, distal lower extremities, or both. Age of onset varies from early childhood to late adulthood. Most of the disorders causing distal myopathic weakness are genetically based.
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The distal myopathies are a rare and heterogeneous group of neuromuscular disorders. Patients present with weakness of the hands, distal lower extremities, or both. Age of onset varies from early childhood to late adulthood. Most of the disorders causing distal myopathic weakness are genetically based.
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Journal of Neurology, 1981
The sporadic distal myopathies are uncommon primary muscle diseases, the pathogenesis of which is still unclear. The inclusion body myositides are inflammatory myopathies, the distal form of which presents some features resembling those of sporadic distal myopathy. A case is reported of a patient showing features of both the first and the second forms.
Vaccario, Maria Luigia +3 more
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The sporadic distal myopathies are uncommon primary muscle diseases, the pathogenesis of which is still unclear. The inclusion body myositides are inflammatory myopathies, the distal form of which presents some features resembling those of sporadic distal myopathy. A case is reported of a patient showing features of both the first and the second forms.
Vaccario, Maria Luigia +3 more
openaire +3 more sources