Results 131 to 140 of about 927 (180)
Camptocormia in a Patient with Parkinson Disease and a Myopathy with Nemaline Rods
American Journal of Physical Medicine & Rehabilitation, 2007 Camptocormia, also referred to as bent spine, is a gait disorder characterized by hyperflexion of the thoracolumbar spine that develops in recumbent position while walking and that disappears in supine position. Myopathy is one of the frequent causes of camptocormia.
Feriha, Ozer +4 more
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Intranuclear rods in severe congenital nemaline myopathy
Neurology, 1993We compared the muscle pathology and clinical course in eight patients with congenital nemaline myopathy. An abundance of large intranuclear rods was present in the muscle fibers of one patient with a rapid, fatal course. Intranuclear rods were not present in the muscles of seven patients with a benign course.
Cornelia Kamp +2 more
exaly +3 more sources
Familial congestive cardiomyopathy with nemaline rods in heart and skeletal muscle
Virchows Archiv A, Pathological Anatomy and Histopathology, 1985Primary familial cardiomyopathy, once exclusively associated with hypertrophic disorders, is now recognized to occur in a dilated or congestive form. In some instances, characteristic myocellular inclusions of varying morphologies have been identified. Nemaline rods are inclusions which typically have been linked with a rather benign and nonprogressive
Joan G Jones +2 more
exaly +3 more sources
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods
Neuromuscular Disorders, 2003Myotilin is a Z-disc protein that binds alpha-actinin, gamma-filamin and F-actin. The essential role of myotilin in skeletal muscle is highlighted by the recent observation that autosomal dominant limb girdle muscular dystrophy type 1A is caused by mutations in the human myotilin gene.
Jens Reimann +2 more
exaly +3 more sources
Nemaline Myopathy with Exclusively Intranuclear Rods and a Novel Mutation in ACTA1 (Q139H)
Neuropediatrics, 2007Nemaline myopathies (NM) are a rare group of muscle disorders, but represent one of the most common forms of congenital myopathy. The clinical picture ranges from severe muscular hypotonia often leading to death during childhood to mild forms with long life expectancy. Diagnosis is made by muscle biopsy showing characteristic sarcoplasmic and sometimes
A Koy +2 more
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Centronuclear Myopathy with Abundant Nemaline Rods in a Japanese Black and Hereford Crossbred Calf [PDF]
Journal of Comparative Pathology, 2020 application/pdfHistopathological examination was performed on skeletal and diaphragmatic muscles from an 8-month-old male crossbred calf showing abnormal gait and tremor of the hindlimbs.
K Kamio
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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
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Nemaline Rods in Cricopharyngeal Dysphagia
American Journal of Clinical Pathology, 1980Cricopharyngeal dysphagia, a disorder of uncertain pathogenesis, is most frequently found in patients with associated gastroesophageal reflux. Seven patients who had dominant cricopharyngeal dysphagia were evaluated. Manometry showed characteristic motor incoordination. Biochemical profiles and endoscopy were normal.
W, Hanna, R D, Henderson
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Optical reconstruction of nemaline rods
Experimental Neurology, 1980Abstract Optically filtered and reconstructed images were obtained from the Z lattice in a specimen of partially extracted skeletal muscle from a patient with nemaline myopathy. Data from longitudinal sections of Z rods showed a 37.5-nm repeat along the axial filaments associated with an array of connecting filaments.
M A, Goldstein +3 more
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Journal of the Neurological Sciences, 1982
Abstract Ca2+-activated protease (CAF) digestion of glycerinated nemaline myopathy muscle removed the electron-dense material covering rods and Z-lines and exposed longitudinal backbone filaments, 6–7 nm wide, which span the lengths of the original rods.
M. Yamaguchi +4 more
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Abstract Ca2+-activated protease (CAF) digestion of glycerinated nemaline myopathy muscle removed the electron-dense material covering rods and Z-lines and exposed longitudinal backbone filaments, 6–7 nm wide, which span the lengths of the original rods.
M. Yamaguchi +4 more
openaire +1 more source