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Recent advances in nemaline myopathy [PDF]
Neuromuscular Disorders, 2021 The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods.
Jenni Laitila
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Genetics of the nemaline myopathies and the myotubular myopathies
Neuromuscular Disorders, 1998C Wallgren-Pettersson
exaly +3 more sources
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) [PDF]
Neuromuscular Disorders, 2016 International audienceNemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common
Edoardo Malfatti +2 more
exaly +2 more sources
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
openaire +4 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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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