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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2013
Ämnen:
Original Articles
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk