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Nutritional status of patients with nemaline myopathy and related congenital myopathies in Finland: A pilot study. [PDF]

J Neuromuscul Dis
Lehtokari VL, Similä M, Tammepuu M, Isohanni P, Auranen M, Hiekkala S, Wallgren-Pettersson C, Strang-Karlsson S.   +7 more
europepmc   +1 more source

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function [PDF]

Acta Neuropathologica, 2015
Nemaline myopathy is characterized by muscle weakness and the presence of rod-like (nemaline) bodies. The genetic etiology of nemaline myopathy is becoming increasingly understood with mutations in ten genes now known to cause the disease.
Tamar E Sztal, Mo Zhao, Viola Oorschot
exaly   +2 more sources

Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

Neuromuscular Disorders, 1995
To elucidate the protein composition of the nemaline bodies present in the muscle fibres of patients with congenital nemaline myopathy (CNM), we studied muscle biopsies with monoclonal antibodies against α-actinin and desmin in combination with a ...
B Jasani, Glenn E Morris, Sally Jones
exaly   +2 more sources

Clinical and Histologic Findings in ACTA1 -Related Nemaline Myopathy: Case Series and Review of the Literature

Pediatric Neurology, 2017
BACKGROUND: Nemaline myopathy is a rare congenital disease of skeletal muscle characterized by muscle weakness and hypotonia, as well as the diagnostic presence of nemaline rods in skeletal muscle fibers.
Osório Abath Neto, Umbertina Conti Reed, Carsten G Bönnemann   +2 more
exaly   +2 more sources

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Nemaline myopathy

Neurology, 1967
NEMALINE MYOPATHY, first described by Shy et al in 1963, 1 is a muscle disease of presently undetermined etiology. Previously reported cases have shown mild to moderate muscle weakness. The present case differs in the severity and widespread distribution of the disease. It is the first reported case with severe involvement of the muscles of deglutition
P, Hudgson, D, Gardner-Medwin, J J, Fulthorpe, J N, Walton   +3 more
openaire   +4 more sources