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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...

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Библиографические подробности
Опубликовано в: :Acta Neuropathol Commun
Главные авторы: Sztal, Tamar E., McKaige, Emily A., Williams, Caitlin, Oorschot, Viola, Ramm, Georg, Bryson-Richardson, Robert J.
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5977763/
https://ncbi.nlm.nih.gov/pubmed/29848386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-018-0546-9
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