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Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
Nebulin—a giant sarcomeric protein—plays a pivotal role in skeletal muscle contractility by specifying thin filament length and function. Although mutations in the gene encoding nebulin (NEB) are a frequent cause of nemaline myopathy, the most common non-dystrophic congenital myopathy, the mechanism...
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| Autors principals: | , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3673460/ https://ncbi.nlm.nih.gov/pubmed/23715096 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt113 |
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