Results 201 to 210 of about 5,284 (245)
Some of the next articles are maybe not open access.
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
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
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
openaire +2 more sources
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 ...
openaire +2 more sources
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
openaire +2 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
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
Neurology, 1978
A 47-year-old man had symptoms of nemaline myopathy for approximately 1 year. There were marked elevations of creatine kinase, a feature not previously described. Examination of the nervous system at autopsy failed to reveal any abnormalities.
A K, Brownell +5 more
openaire +2 more sources
A 47-year-old man had symptoms of nemaline myopathy for approximately 1 year. There were marked elevations of creatine kinase, a feature not previously described. Examination of the nervous system at autopsy failed to reveal any abnormalities.
A K, Brownell +5 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
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