Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism

Nebulin is a giant protein that winds around the actin filaments in the skeletal muscle sarcomere. Compound-heterozygous mutations in the nebulin gene (NEB) cause typical nemaline myopathy (NM), a muscle disorder characterized by muscle weakness with limited treatment options. We created a mouse mod...

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Detalles Bibliográficos
Autores principales: Lindqvist, Johan, Ma, Weikang, Li, Frank, Hernandez, Yaeren, Kolb, Justin, Kiss, Balazs, Tonino, Paola, van der Pijl, Robbert, Karimi, Esmat, Gong, Henry, Strom, Josh, Hourani, Zaynab, Smith, John E., Ottenheijm, Coen, Irving, Thomas, Granzier, Henk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264197/
https://www.ncbi.nlm.nih.gov/pubmed/32483185
http://dx.doi.org/10.1038/s41467-020-16526-9

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