Results 141 to 150 of about 69,426 (175)

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
openaire   +2 more sources

Experimental Core-Like Lesions and Nemaline Rods

Archives of Neurology, 1972
Core-like lesions and nemaline rods were produced in type I extrafusal muscle fibers of rat soleus by Achilles tenotomy. In tenotomized solei the aggregate of motor unit activity was reduced. The continuous pattern of motor unit activity characterizing normal soleus was changed to a phasic pattern. Sciatic neurotomy or thoracic cordotomy at the time of
G, Karpati, S, Carpenter, A A, Eisen
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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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L-tyrosine for treatment of an infant with nemaline rod myopathy

BMJ Case Reports
Nemaline rod myopathy is an extremely rare muscle disease responsible for hypotonia and poor muscle strength in infants. The disease has variable phenotypic presentations across different ages, ranging from neonatal to the adult onset and from severe to asymptomatic varieties. Clinical features, muscle biopsy and genetic testing help in diagnosis.
Neha Dalal, Kirti Naranje, Amita Moriangthem, Anita Singh   +3 more
openaire   +2 more sources

Nemaline (rod) myopathy: Thexs need for histochemical evaluation of affected families

Annals of Neurology, 1978
AbstractHistochemical changes in the mother of a patient with nemaline myopathy were used to identify her as the gene carrier even though rod‐bodies were not present in her muscle biopsy and she was not weak. The patient and her mother both had marked type I fiber predominance with large groups of type I fibers present.
A N, Bender, J P, Willner
openaire   +2 more sources

Chilhood onset familial nemaline rod myopathy: A report of two siblings

Journal of the Neurological Sciences, 2013
Aims: Nemaline rod myopathy (NRM) is a rare form of congenital myopathy characterized by slowly progressive or non progressive muscle weakness and pathognomonic rod-like structures within the muscle fibers. Muscle weakness and hypotonia are apparent from the neonatal period.
Geetanjali Sharma, Sushma Sood
openaire   +1 more source

Rod Distribution and Muscle Fiber Type Modification in the Progression of Nemaline Myopathy

Journal of Child Neurology, 2003
Nemaline myopathy is a structural congenital myopathy associated with the presence of rodlike structures inside the muscle fibers and type I predominance. It may be caused by mutations in at least five genes: slow α-tropomyosin 3 (chromosome 1q22-23), nebulin (chromosome 2q21.1-q22), actin (chromosome 1q42), tropomyosin 2 (chromosome 9p13), and ...
Juliana, Gurgel-Giannetti, Umbertina C, Reed, Sueli K, Marie, Edmar, Zanoteli, Moacir A T, Fireman, Acary S B, Oliveira, Lineu C, Werneck, Alan H, Beggs, Mayana, Zatz, Mariz, Vainzof   +9 more
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[Infantile form of nemaline (rod inclusion) myopathy].

Wiener klinische Wochenschrift, 1988
This paper reports the first Austrian case of infantile nemaline myopathy in a girl aged 19 years, presenting with congenital skeletal dysplasia, reduced body weight and slowly progressive limb girdle muscular atrophy, myopathic face and difficulty in swallowing.
W, Berger, W, Grisold, K, Jellinger
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Nemaline myopathy rod bodies. Structure and composition.

Journal of the neurological sciences, 1983
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. Decoration of the exposed filaments (which are responsible for the periodicity parallel to the long axis of ...
M, Yamaguchi, R M, Robson, M H, Stromer, D S, Dahl, T, Oda   +4 more
openaire   +1 more source

HIV, rods, and the muscles--a discussion about HIV-associated nemaline rod myopathy.

The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society, 2013
This case reports a 21-year-old, homosexual African-American male who presented to our facility with a two-week history of progressive proximal muscle weakness. Quadriceps muscle biopsy showed a diagnosis of Nemaline Rod Myopathy, the presenting disease of his HIV infection.
Phillip, Madonia, Jon, Wilson, Orhan, Bican, Megan, Willis, Pat, Bass   +4 more
openaire   +1 more source