Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy
Lacramioara Fabian,
Esmat Karimi,
Gerrie P Farman
et al.
Abstract:Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterized by muscle weakness and hypotonia, slow gross motor development, and decreased respiratory function. Mutations in at least twelve genes, all of each encode proteins that are either components of the muscle thin filament or regulate its length and stability, have been associated with NM. Mutations in Nebulin (NEB), a giant filamentous protein localized in the sarcomere, account for more than 50% of NM cases. At present, there remain… Show more
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