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Defective regulation of contractile function in muscle fibres carrying an E41K β-tropomyosin mutation

A novel E41K β-tropomyosin (β-Tm) mutation, associated with congenital myopathy and muscle weakness, was recently identified in a woman and her daughter. In both patients, muscle weakness was coupled with muscle fibre atrophy. It remains unknown, however, whether the E41K β-Tm mutation directly affe...

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Autores principales: Ochala, Julien, Li, Meishan, Ohlsson, Monica, Oldfors, Anders, Larsson, Lars
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Science Inc 2008
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2517209/
https://ncbi.nlm.nih.gov/pubmed/18420702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2008.153650
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