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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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| Main Authors: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | 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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