Results 121 to 130 of about 69,426 (175)

Nemaline rods in chorea-acanthocytosis

Muscle and Nerve, 2005
AbstractIn chorea‐acanthocytosis, a neurological disorder associated with multisystem degeneration, amyotrophy and peripheral neuropathy are sometimes conspicuous. We describe a patient with chorea‐acanthocytosis who showed distributed nemaline rods in biopsied muscle.
Hiroshi Yaguchi, Kiyoharu Inoue, Masaya Hashimoto   +2 more
exaly   +3 more sources

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

Journal of Child Neurology, 2012
Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders. Nemaline rods have not been reported in pyruvate carboxylase deficiency before. Here we present a patient with pyruvate carboxylase deficiency and nemaline rods detected on muscle biopsy.
TOKATLI, AYŞEGÜL, COŞKUN, TURGAY, DURSUN, ALİ, ORHAN, DİCLEHAN, Kalkanoglu-Sivri, H. Serap, Wibrand, Flemming, ÖZTÜRK HİŞMİ, BURCU, Ostergaard, Elsebet, Unal, Ozlem   +8 more
openaire   +5 more sources

Neonatal nemaline myopathy with abundant intranuclear rods

Neuromuscular Disorders, 1994
A term hypotonic female infant was born to a primigravida mother. The infant required mechanical ventilation from birth until death at 5 weeks of age. An elevated serum creatine kinase of 1300 IU l-1 lead to a quadriceps muscle biopsy at 3 days of age. The biopsy showed numerous intranuclear inclusions on light microscopy.
Carlayne E Jackson, C E Jackson
exaly   +3 more sources

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, Oya, Ozturk, Hasan, Meral, Piraye, Serdaroglu, Vildan, Yayla   +4 more
openaire   +3 more sources

Intranuclear rods in severe congenital nemaline myopathy

Neurology, 1993
We 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.
Robert C. Griggs, R C Griggs
exaly   +3 more sources

Familial congestive cardiomyopathy with nemaline rods in heart and skeletal muscle

Virchows Archiv Fur Pathologische Anatomie Und Physiologie Und Fur Klinische Medizin, 1985
Primary 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
Stephen M Factor, Joan G Jones, S M Factor   +2 more
exaly   +3 more sources

Nemaline Myopathy with Exclusively Intranuclear Rods and a Novel Mutation in ACTA1 (Q139H)

Neuropediatrics, 2007
Nemaline 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
Kathryn North, Joachim Weis, A Koy
exaly   +3 more sources

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, M Ide
exaly   +2 more sources

Intranuclear nemaline rod myopathy

Muscle & Nerve, 2006
AbstractThe 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, Hans, Goebel, Nigel, Laing, Michael, Narus, Douglas, Weeks, Randal, Nixon   +5 more
openaire   +2 more sources

Nemaline Rods in Cricopharyngeal Dysphagia

American Journal of Clinical Pathology, 1980
Cricopharyngeal 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
openaire   +2 more sources