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Functional Effects of Nemaline Myopathy Mutations on Human Skeletal α-Actin

Mutations in human α-skeletal actin have been implicated in causing congenital nemaline myopathy, a disease characterized histopathologically by nemaline bodies in skeletal muscle and manifested in the patient as skeletal muscle weakness. Here we investigate the functional effects of three severe ne...

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Detalhes bibliográficos
Main Authors: Miller, Becky M., Trybus, Kathleen M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2443645/
https://ncbi.nlm.nih.gov/pubmed/18477565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M801963200
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