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Keywords: Nemaline myopathy
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Journal Articles
J Cell Sci (2013) 126 (23): 5477–5489.
Published: 01 December 2013
...; Marie-Louise Bang Summary Nemaline myopathy (NM) is a congenital myopathy with an estimated incidence of 1∶50,000 live births. It is caused by mutations in thin filament components, including nebulin, which accounts for about 50% of the cases. The identification of NM cases with nonsense mutations...
Includes: Supplementary data
Journal Articles
J Cell Sci (2010) 123 (3): 384–391.
Published: 01 February 2010
... of nebulin KO mice contain electron-dense Z-disk-like bodies that are similar to nemaline rod bodies that are a hallmark of nemaline myopathy in humans ( Wallgren-Pettersson et al., 2004 ). Furthermore, histograms of Z-disk width ( Fig. 6 ) show that the majority of all Z-disks in both WT and nebulin KO...
Includes: Supplementary data
Journal Articles
J Cell Sci (2004) 117 (15): 3367–3377.
Published: 01 July 2004
... of Geneva, 1211 Geneva 4, Switzerland ‡ Present address: Department of Human Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK 23 2 2004 © The Company of Biologists Limited 2004 2004 Actin Nemaline myopathy Actin polymerization Protein folding...