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Keywords: Nemaline myopathy
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Journal Articles
Journal Articles
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
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...