Results 151 to 160 of about 3,165 (200)
A new phenotype of autosomal dominant nemaline myopathy
Neuromuscular Disorders, 2002 We present a five-generation family with a novel phenotype of autosomal dominant nemaline myopathy not linked to the three genes known to be causative for nemaline myopathy (alpha-tropomyosin-3, nebulin, and alpha-actin).
Baziel G M Van Engelen +2 more
exaly +2 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
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
openaire +3 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Muscle & Nerve, 1986
AbstractAn apparently inherited myopathy, characterized by the presence of large numbers of nemaline rods in skeletal muscle fibers, was investigated in five cats. Onset of signs varied from 6 months to 1.5 years of age and consisted of reluctance to move, jerky gait and muscle twitching, hyporeflexia, and muscle wasting, which was most prominent in ...
B J, Cooper +3 more
openaire +2 more sources
AbstractAn apparently inherited myopathy, characterized by the presence of large numbers of nemaline rods in skeletal muscle fibers, was investigated in five cats. Onset of signs varied from 6 months to 1.5 years of age and consisted of reluctance to move, jerky gait and muscle twitching, hyporeflexia, and muscle wasting, which was most prominent in ...
B J, Cooper +3 more
openaire +2 more sources
Progression in nemaline myopathy
Acta Neuropathologica, 1989Four of seven patients with nemaline myopathy had severe, rapidly progressing symptoms. These four showed an increase in acid phosphatase activity in muscle fibers demonstrated by histochemistry and cathepsin B&L activity by biochemical measurement. On electron microscopy, nemaline bodies, occasionally disorganized myofibrils and autophagic vacuoles ...
I, Nonaka +5 more
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy
Neuromuscular Disorders, 2011 Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease.
Vilma-Lotta Lehtokari +2 more
exaly +2 more sources
Hereditary Occurrence of Nemaline Myopathy
Archives of Neurology, 1965SINCE the original descriptions of nemaline myopathy in 1963 by Shy et al1,2in a four-yearold girl with pelvic and pectoral girdle weakness, other cases from different families have been described.3-5In none of these cases have muscle biopsies proved involvement of other members of the family with an exact disease process.
A J, Spiro, C, Kennedy
openaire +3 more sources