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Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy

Nebulin is a giant filamentous protein that is coextensive with the actin filaments of the skeletal muscle sarcomere. Nebulin mutations are the main cause of nemaline myopathy (NEM), with typical adult patients having low expression of nebulin, yet the roles of nebulin in adult muscle remain poorly...

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Publicado en:Hum Mol Genet
Autores principales: Li, Frank, Buck, Danielle, De Winter, Josine, Kolb, Justin, Meng, Hui, Birch, Camille, Slater, Rebecca, Escobar, Yael Natelie, Smith, John E., Yang, Lin, Konhilas, John, Lawlor, Michael W., Ottenheijm, Coen, Granzier, Henk L.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4550825/
https://ncbi.nlm.nih.gov/pubmed/26123491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv243
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