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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865762/
https://ncbi.nlm.nih.gov/pubmed/23572184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101470
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