Results 111 to 120 of about 1,422 (160)
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Neurology, 1967
NEMALINE MYOPATHY, first described by Shy et al in 1963, 1 is a muscle disease of presently undetermined etiology. Previously reported cases have shown mild to moderate muscle weakness. The present case differs in the severity and widespread distribution of the disease. It is the first reported case with severe involvement of the muscles of deglutition
P, Hudgson +3 more
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NEMALINE MYOPATHY, first described by Shy et al in 1963, 1 is a muscle disease of presently undetermined etiology. Previously reported cases have shown mild to moderate muscle weakness. The present case differs in the severity and widespread distribution of the disease. It is the first reported case with severe involvement of the muscles of deglutition
P, Hudgson +3 more
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Seminars in Pediatric Neurology, 2011
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread, nema. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. The patients' muscle weakness is usually generalized, but there may be a selective pattern of more pronounced ...
Carina, Wallgren-Pettersson +3 more
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Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread, nema. The diagnosis is based on muscle weakness, combined with visualization of nemaline bodies on muscle biopsy. The patients' muscle weakness is usually generalized, but there may be a selective pattern of more pronounced ...
Carina, Wallgren-Pettersson +3 more
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Archives of Neurology, 1964
Introduction A newly recognized disease of skeletal muscle was discovered recently in a 4-year-old girl. 1,2 The child had congenital, apparently nonprogressive, muscular weakness that was more severe proximally. In her biopsied skeletal muscle fibers were abnormal rod-shaped structures, which cytochemically appeared to be altered myofibrillar ...
W K, ENGEL, T, WANKO, G M, FENICHEL
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Introduction A newly recognized disease of skeletal muscle was discovered recently in a 4-year-old girl. 1,2 The child had congenital, apparently nonprogressive, muscular weakness that was more severe proximally. In her biopsied skeletal muscle fibers were abnormal rod-shaped structures, which cytochemically appeared to be altered myofibrillar ...
W K, ENGEL, T, WANKO, G M, FENICHEL
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Neuropediatrics, 1982
Two sisters with congenital nemaline myopathy are described. In both cases almost 70% of muscle fibers contained rods which were selectively localized in the larger ones. The variability coefficient was abnormally increased. Histochemical reactions showed that almost all the muscle fibers were type 1.
G, Scarlato +6 more
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Two sisters with congenital nemaline myopathy are described. In both cases almost 70% of muscle fibers contained rods which were selectively localized in the larger ones. The variability coefficient was abnormally increased. Histochemical reactions showed that almost all the muscle fibers were type 1.
G, Scarlato +6 more
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Intranuclear nemaline rod myopathy
Muscle & Nerve, 2006AbstractThe clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α‐actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy ...
Vassil, Kaimaktchiev +5 more
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Nemaline and myotubular myopathies
Seminars in Pediatric Neurology, 2002Nemaline myopathy is caused by mutations in one of at least six different genes. The clinical picture also varies widely, in terms of the grade and the distribution of muscle weakness. In familial cases, autosomal-recessive inheritance is more common than autosomal-dominant inheritance, and in some patients the disorder is caused by new dominant ...
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FATAL NEONATAL NEMALINE MYOPATHY
Acta Pathologica Japonica, 1982Nemaline myopathy was first reported in 1963 and has been considered to be a congenital, non‐progressive myopathy with weakness since birth. However, severe forms leading to death in infancy have been rarely reported. Recently we necropsied a female infant with fatal neonatal nemaline myopathy who required mechanical ventilatory support immediately ...
T, Matsuo +4 more
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Nemaline myopathy and cardiomyopathy
Pediatric Neurology, 1999A case report is presented in which a 4-year-old male is diagnosed with hypertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psychomotor retardation. Electron microscopic study of skeletal muscle biopsy revealed pathologic changes typical of congenital nemaline myopathy, and biochemical analysis revealed a disorder of mitochondrial ...
M L, Skyllouriotis +4 more
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