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Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy
The mechanism of muscle weakness was investigated in an Australian family with a M9R mutation in TPM3 (α-tropomyosin(slow)). Detailed protein analyses of five muscle samples from two patients showed that nemaline bodies are restricted to atrophied type 1 (slow) fibers in which the TPM3 gene is expre...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2746243/ https://ncbi.nlm.nih.gov/pubmed/18716557 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e318183a44f |
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