Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

OBJECTIVE: Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament. Mechanisms underlying muscle weakness are poorly understood, but might involve...

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Foilsithe in:Ann Neurol
Main Authors: de Winter, Josine M., Joureau, Barbara, Lee, Eun-Jeong, Kiss, Balázs, Yuen, Michaela, Gupta, Vandana A., Pappas, Christopher T., Gregorio, Carol C., Stienen, Ger J. M., Edvardson, Simon, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Pelin, Katarina, Malfatti, Edoardo, Romero, Norma B., van Engelen, Baziel G., Voermans, Nicol C., Donkervoort, Sandra, Bönnemann, C. G., Clarke, Nigel F., Beggs, Alan H., Granzier, Henk, Ottenheijm, Coen A. C.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2016
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4911820/
https://ncbi.nlm.nih.gov/pubmed/27074222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24654
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