Results 141 to 150 of about 927 (180)

Early infant death in nemaline (rod) myopathy

Brain and Development, 1983
Congenital 'floppy infant' syndrome with very early death is uncommon. It is here described in a girl. Histopathological examination of a muscle biopsy at the age of 10 days showed rods and infiltration of inflammatory cells. Death occurred at 5 weeks of age. Electron microscopy of the necropsy material showed widened Z disks and rods of Z disk density
O, Eeg-Olofsson, K G, Henriksson, L E, Thornell, G, Wesström   +3 more
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Nemaline rod myopathy: A rare form of myopathy

Neurology India, 2007
Nemaline rod myopathy (NM) is a rare form of congenital myopathy characterized by slowly progressive or nonprogressive muscle weakness and pathognomonic rod-like structures within the muscle fibers. To the best of our knowledge, this is first documentation of the clinicopathological features of this rare entity from India.
M C, Sharma, S, Gulati, S, Atri, R, Seth, V, Kalra, T K, Das, C, Sarkar   +6 more
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Congenital myopathy with abundant nemaline rods in a cat

Neuromuscular Disorders, 2006
Nemaline myopathy is associated with rod-shaped structures in muscle fibers. At least seven distinct clinical forms have been described in humans and mutations have been identified in five different thin-filament genes. Only a few cases of spontaneously occurring nemaline myopathy have been reported in animals and include an adult-onset form in a ...
Stephanie A, Kube, Karen M, Vernau, Richard A, LeCouteur, Andrew P, Mizisin, G Diane, Shelton   +4 more
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Prolonged survival in neonatal nemaline rod myopathy

Pediatric Neurology, 1994
Two children are reported who are notable exceptions to the rule of early mortality reported for neonates with severe nemaline rod myopathy. Their conditions improved progressively from birth with full pediatric critical care unit support. They achieved respiratory independence at 22 months and 15 months and now at ages 29 months and 17 months ...
B L, Banwell, N C, Singh, D A, Ramsay
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Central core and nemaline rods in the same patient

Acta Neuropathologica, 1997
It is quite rare, that central cores and nemaline bodies occur in the same individual. We describe the case of a 12-year-old girl, who was born with bilateral congenital hip dislocation. Her early motor milestones were delayed. Due to proximal weakness of the lower extremities she has never been able to walk. The family history was negative.
E, Pallagi, M, Molnár, P, Molnár, P, Diószeghy   +3 more
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Sarcoplasmic bodies in distal myopathy compared with nemaline rods

Journal of the Neurological Sciences, 1981
Sarcoplasmic bodies in a late onset distal myopathy and rods in nemaline myopathy have been investigated by electron probe X-ray microanalysis correlated to light microscopy. Sarcoplasmic bodies were glassy, drop-shaped structures up to 10 microns of length and easily distinguished in the scanning mode of electron microscopy performed on thick freeze ...
L, Edström, R, Wroblewski
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Actin filaments form the backbone of nemaline myopathy rods

Nature, 1978
NEMALINE myopathy, a congenital neuromuscular disease, is one of several muscle disorders in which apparently abnormal Z lines, or Z line-type structures emanating from Z lines, has been described1–6. There has been considerable speculation concerning the chemical composition and structural arrangement of proteins in nemaline rods2,4,7–12, but these ...
M, Yamaguchi, R M, Robson, M H, Stromer, D S, Dahl, T, Oda   +4 more
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Mutations in the Nebulin Gene in a Child with Nemaline (Rod) Myopathy

The Indian Journal of Pediatrics, 2012
Nemaline myopathy, also called rod myopathy, is a relatively common congenital myopathy and probably second in incidence only to central core disease. The mainstay of diagnosis is histopathology, but detection of the causative mutation is mandatory for determining the mode of inheritance and for prenatal diagnosis.
Seema, Kapoor, Ankur, Singh, Vilma-Lotta, Lehtokari, Carina, Wallgren-Pettersson, Vineeta Vijay, Batra   +4 more
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Intranuclear Rod Myopathy, a Rare and Morphologically Striking Variant of Nemaline Rod Myopathy

Ultrastructural Pathology, 2003
A 4-year-old boy with muscle weakness underwent skeletal muscle biopsies. Light microscopy showed distinct eosinophilic inclusions within the majority of muscle cell nuclei, but none in the cytoplasm. Electron microscopy revealed crystalline, round to rod-shaped inclusions in the muscle cell nuclei.
Douglas A, Weeks, Randal R, Nixon, Vassil, Kaimaktchiev, Gary W, Mierau   +3 more
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Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype

Annals of Neurology, 2002
AbstractTwo siblings (patients 1 and 2) had adult‐onset muscle weakness that was greater distally than proximally, as well as respiratory insufficiency, cardiomyopathy, and cervical spine anomalies. Electromyography studies indicated myopathy and findings consistent with neuropathy in both.
Duygu, Selcen, Bruce R, Krueger, Andrew G, Engel   +2 more
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