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: Ilkovski, Biljana, Mokbel, Nancy, Lewis, Raymond A., Walker, Kendall, Nowak, Kristen J., Domazetovska, Ana, Laing, Nigel G., Fowler, Velia M., North, Kathryn N., Cooper, Sandra T.
Format: Artigo
Sprog:Inglês
Udgivet: 2008
Fag:
Article
Online adgang: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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