Results 171 to 180 of about 314,455 (204)
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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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Autosomal dominant distal myopathy not linked to the known distal myopathy loci
Neuromuscular Disorders, 1999The distal myopathies are clinically, pathologically and genetically heterogenous. Thus far, seven types of distal myopathy have been linked to four chromosome loci. We recently examined four affected members from three generations of an autosomal dominant distal myopathy kindred. A muscle biopsy was performed on the index case.
K J, Felice +7 more
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Welander distal myopathy – an overview
Neuromuscular Disorders, 1998Welander distal myopathy has an autosomal dominant inheritance and a late onset. The onset of symptoms is in the hands and gradually distal muscles of the lower extremities are involved. The most-affected muscles are the long extensors of the hands and feet. CK-values are normal or slightly elevated.
K, Borg +3 more
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Neurology, 1977
This report describes the clinical, laboratory, and muscle biopsy histochemical and electron microscopic studies of one inherited and two sporadic cases of distal myopathy. Histopathologic and histochemical studies showed numerous myopathic alterations and no significant evidence of denervation.
W R, Markesbery, R C, Griggs, B, Herr
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This report describes the clinical, laboratory, and muscle biopsy histochemical and electron microscopic studies of one inherited and two sporadic cases of distal myopathy. Histopathologic and histochemical studies showed numerous myopathic alterations and no significant evidence of denervation.
W R, Markesbery, R C, Griggs, B, Herr
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Distal myopathy with rimmed vacuoles
Neuromuscular Disorders, 1998Distal myopathy with rimmed vacuoles is an autosomal recessively inherited disorder with preferential involvement of the anterior tibial muscle. Recently the gene was discovered to be mapped to chromosome 9, the same region as in familial inclusion body myopathy (rimmed vacuole myopathy sparing the quadriceps).
I, Nonaka +3 more
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Distal Myopathy of Gowers: A Reappraisal
European Neurology, 2008This article argues against the general idea that the patient described by Gowers as distal myopathy in 1902 may have suffered from myotonic dystrophy. A case of distal myopathy with markedly atrophic sternocleidomastoids is presented. Patients of distal myopathy with absence of sternocleidomastoids, sometimes accompanied by facial weakness, are ...
T, Furukawa +3 more
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Neurologia i neurochirurgia polska, 1986
A family with distal myopathy with early onset of the disease and autosomal dominant inheritance is reported. In EMG examination and in the histological examination of muscle features of nervous system involvement were found besides primarily muscular lesions. The character of the pathological changes in the muscles is discussed.
B, Badurska, A, Pfeffer-Baczuk
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A family with distal myopathy with early onset of the disease and autosomal dominant inheritance is reported. In EMG examination and in the histological examination of muscle features of nervous system involvement were found besides primarily muscular lesions. The character of the pathological changes in the muscles is discussed.
B, Badurska, A, Pfeffer-Baczuk
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