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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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| Autori principali: | , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Biochemistry and Molecular Biology
2008
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| Soggetti: | |
| Accesso online: | 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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