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BMJ Neurology OpenBackground Late-onset sporadic nemaline myopathy (SLONM) is a rare, treatable or potentially life-threatening muscle disorder that typically manifests late in life and is characterised by the presence of nemaline rods within muscle fibres, serving as the
Menachem Sadeh, Yakov Fellig, Ron Dabby
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Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion
Skeletal MuscleBiallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in NEB.
Zachary Coulson +7 more
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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
openaire +4 more sources
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
openaire +3 more sources
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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Nemaline myopathy in the neonate
Neurology, 1983Nemaline myopathy, one of the more benign myopathies in older children and adults, may be associated with early death in the neonate and young infant even when there is no obvious clinical progression. Early diagnosis can be made by muscle biopsy in the neonate for aid in the decision-making, discussion with families, and genetic counseling.
P, Norton +3 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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