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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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: 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
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha: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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