Results 151 to 160 of about 927 (180)

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

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
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

Nemaline rod and degeneration of Z band of muscle cell in weightlessness at spaceflight

Acta Astronautica, 1999
There are some studies demonstrating the skeletal muscle degeneration associated with the degeneration of Z band and appearance of nemaline rods in experimental animals of the simulation model for spaceflight but not in human heart tissues. In the present study, therefore, we investigated the pathological changes or degeneration in left auricular heart
M, Imuta, I, Higuchi
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

[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
openaire   +1 more source

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

Fast to slow change of myosin in nemaline rod myopathy

Neurology, 1983
C S, Giometti, M J, Danon
openaire   +3 more sources

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

Nemaline Rod and Central Core Disease

Journal of Neuropathology and Experimental Neurology, 1996
C. Thomas, M. Gujrati
openaire   +1 more source