Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

BACKGROUND: Nemaline myopathy—the most common non-dystrophic congenital myopathy—is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one. The nebulin gene codes for the giant sarcomeric protein nebulin, which plays a crucial role in skeletal muscl...

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Detalles Bibliográficos
Autores principales: de Winter, Josine Marieke, Buck, Danielle, Hidalgo, Carlos, Jasper, Jeffrey R, Malik, Fady I, Clarke, Nigel F, Stienen, Ger J M, Lawlor, Michael W, Beggs, Alan H, Ottenheijm, Coen A C, Granzier, Henk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865762/
https://www.ncbi.nlm.nih.gov/pubmed/23572184
http://dx.doi.org/10.1136/jmedgenet-2012-101470

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