...; 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...

... 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...

... 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...