Results 191 to 200 of about 7,635 (221)
Some of the next articles are maybe not open access.
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
openaire +2 more sources
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
openaire +2 more sources
, 2017 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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources