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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang: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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