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The sarcomeric protein nebulin: another multifunctional giant in charge of muscle strength optimization... Consequently, muscle weakness as the lead symptom develops in the case of patients with nemaline myopathy that have mutations in the nebulin gene....

santé / détérioration de l'environnement / produit animal - core.ac.uk - PDF: www.pubmedcentral.nih.gov

Sarcomeric, cytoskeletal and extracellular matrix proteins... In all biopsy specimens obtained from patients with central core disease (CCD), nemaline myopathy (NM), X-linked myotubular myopathy (XLMTM) and centronuclear myopathy (CNM), disease-specific desmin disturbances were observed....

PDF: digitalarchive.maastrichtuniversity.nl

Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy.Nemaline myopathy is the most common disease entity among non-dystrophic skeletal muscle congenital diseases....

PDF: doaj.org

Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expressionMutations in the skeletal muscle α-actin gene (ACTA1) cause congenital myopathies including nemaline myopathy, actin aggregate myopathy and rod-core disease....

PDF: www.pubmedcentral.nih.gov

Publications scientifiques

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Nebulin regulates thin filament length, contractility, and z-disk structure in vivo... Phenotypically, the murine model recapitulates human nemaline myopathy (NM), that is, the formation of nemaline rods combined with severe skeletal muscle weakness....

industries du cuir et du textile / santé / produit animal - core.ac.uk - PDF: www.pubmedcentral.nih.gov