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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2013
विषय:
Original Articles
ऑनलाइन पहुंच: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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