Results 81 to 90 of about 927 (180)

[Congenital myopathy with cores and nemaline rods in one family].

Neurologia (Barcelona, Spain), 1995
We present a mother and 2 children with congenital myopathy whose clinical signs were facial paresis in all three, and mild involvement of the lower extremities in the mother and one son. All three presented skeletal abnormalities, hypertelorism, arched palate, retraction of the Achilles tendon or short neck.
J L, Casado, C, Arenas, D, Segura, I, Chinchón, R, González, J, Bautista   +5 more
openaire   +1 more source

Nebulin expression in patients with nemaline myopathy

, 2001
Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identified as the cause of nemaline myopathy: the gene for slow alpha -
Zatz, M., Carvalho, M., Zanoteli, E., Fireman, MAT, Gurgel-Giannetti, J., Oliveira, ASB, Vainzof, M., Pelin, K., Labeit, S., Reed, U., Marie, S. K., Donner, K., Bang, M. L., Wallgren-Pettersson, C.   +13 more
core   +1 more source

Nemaline myopathy: Case report with adult onset [Miopatia nemalinica. Descrizione di un caso ad esordio adulto]

, 2000
Nemaline myopathy is a rare congenital muscle disease, that may present with neonatal and adult onset. We report the case of a 73 year-old woman in whom symptoms appeared at the age of fourthy with proximal muscle weakness, nightly cramps, muscle pain ...
Mondelli, M., Malandrini, A., Federico, A., Dotti, M. T., Ginanneschi, F.   +4 more
core  

Image_1_Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.pdf

BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations ...
Martina Rimoldi (17486229), Daniela Piga (6279233), Laura Napoli (13030965), Francesca Magri (289272), Simona Zanotti (12386481), Giacomo Pietro Comi (9207032), Daniele Velardo (3437636), Stefania Corti (3425267), Michela Ripolone (13886699), Patrizia Ciscato (558222), Dario Ronchi (3425252), Serena Pagliarani (17967239), Enrico Bertini (156405), Adele D’Amico (289256)   +13 more
core   +1 more source

Case Report - Nemaline rod myopathy: A rare form of myopathy

, 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.
Sharma, MC, Gulati, S
core   +1 more source

Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods.

Experimental cell research, 1980
A biopsy of skeletal muscle taken from a child with the clinical symptoms of congenital nemaline myopathy was studied. Light and electron microscopy revealed rod-like structures within the muscle fibres, and thus confirmed the clinical diagnosis. Indirect immunofluorescence, using specific antibodies against actin and desmin (both derived from chicken ...
Jockusch, B.M., Veldman, H., Griffiths, G.W., Oost, B.A. van, Jennekens, F.G.I.   +4 more
openaire   +2 more sources

Myopathies Associated With Monoclonal Gammopathies of Clinical Significance: A Narrative Review. [PDF]

Cureus
Belkhribchia MR.
europepmc   +1 more source

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

The diagnosis of the hypotonia during neonatal period is difficult. In the neonatal period, acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism should be considered in the differential diagnosis ...
Kanar, B, Ilhan, O, Dündar, NO, Cavusoglu, D, Ozer, E, Memur, S, Diniz, G, Akbay, S   +7 more
core  

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6. [PDF]

Hum Mol Genet
Baelde RJ, Vonk LA, Nollet EE, Galli RA, Monteiro AF, Bastu S, Das B, van Weeghel M, Schomakers BV, Vinten KT, van den Berg M, van der Velden J, Houtkooper RH, Voermans NC, Malfatti E, Ottenheijm CAC, de Winter JM.   +16 more
europepmc   +1 more source