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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Main Authors: Ottenheijm, Coen A. C., Buck, Danielle, de Winter, Josine M., Ferrara, Claudia, Piroddi, Nicoletta, Tesi, Chiara, Jasper, Jeffrey R., Malik, Fady I., Meng, Hui, Stienen, Ger J. M., Beggs, Alan H., Labeit, Siegfried, Poggesi, Corrado, Lawlor, Michael W., Granzier, Henk
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2013
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Original Articles
Acceso en liña: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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