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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...

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Bibliografiske detaljer
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: 2013
Fag:
Online adgang: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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