Results 171 to 180 of about 333,621 (210)
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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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Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31 [PDF]
American Journal of Human Genetics, 1998 SummaryDistal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet.
Jacques S Beckmann +2 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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Myofibrillar and distal myopathies
Revue Neurologique, 2016Distal myopathies and myofibrillar myopathies are both rare subcategories of muscle diseases. Myofibrillar myopathies are genetically heterogeneous group of diseases characterized by distinctive histopathology of abnormal protein aggregations and myofibrillar disintegration.
Udd Bjarne +5 more
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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.
Reuben Jacob, J Hallmayer
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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).
Yume Suzuki +2 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.
G Ahlberg, Maria Anvret, Lars Edstrom
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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 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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