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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible for approximately 50% of nemaline myopathy cas...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5977763/ https://www.ncbi.nlm.nih.gov/pubmed/29848386 http://dx.doi.org/10.1186/s40478-018-0546-9 |