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1-3 of 3
Keywords: Nemaline myopathy
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Journal Articles
Daniel L. Yamamoto, Carmen Vitiello, Jianlin Zhang, David S. Gokhin, Alessandra Castaldi, Gerald Coulis, Fabio Piaser, Maria Carmela Filomena, Peter J. Eggenhuizen, Paolo Kunderfranco, Serena Camerini, Kazunori Takano, Takeshi Endo, Marco Crescenzi, Pradeep K. L. Luther, Richard L. Lieber, Ju Chen, Marie-Louise Bang
Journal:
Journal of Cell Science
J Cell Sci (2013) 126 (23): 5477–5489.
Published: 1 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
Reduced myofibrillar connectivity and increased Z-disk width in nebulin-deficient skeletal muscle
FreePaola Tonino, Christopher T. Pappas, Bryan D. Hudson, Siegfried Labeit, Carol C. Gregorio, Henk Granzier
Journal:
Journal of Cell Science
J Cell Sci (2010) 123 (3): 384–391.
Published: 1 February 2010
... of mutations in the nebulin gene (including in its Z-disk region) that cause nemaline myopathy (NM) in humans. NM is a member of a class of muscle disorders that phenotypically have in common a severe muscle weakness and structural abnormalities of Z-disks (Gurgel-Giannetti et al., 2001 ; Pelin et al., 1999...
Includes: Supplementary data
Journal Articles
Myopathy mutations in α-skeletal-muscle actin cause a range of molecular defects
Available to PurchaseCéline F. Costa, Heidi Rommelaere, Davy Waterschoot, Kamaljit K. Sethi, Kristen J. Nowak, Nigel G. Laing, Christophe Ampe, Laura M. Machesky
Journal:
Journal of Cell Science
J Cell Sci (2004) 117 (15): 3367–3377.
Published: 1 July 2004
... The Company of Biologists Limited 2004 2004 Actin Nemaline myopathy Actin polymerization Protein folding Myopathy Actin mutations Congenital myopathies resulting from mutations in the gene encoding α-skeletal-muscle actin, ACTA1 , show various phenotypes that have been divided into three...