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Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

Nemaline myopathy (NM) is the most common non-dystrophic congenital myopathy. Clinically the most important feature of NM is muscle weakness; however, the mechanisms underlying this weakness are poorly understood. Here, we studied the muscular phenotype of NM patients with a well-defined nebulin mut...

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Hlavní autoři: Ottenheijm, Coen A.C., Witt, Christian C., Stienen, Ger J., Labeit, Siegfried, Beggs, Alan H., Granzier, Henk
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2009
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694687/
https://ncbi.nlm.nih.gov/pubmed/19346529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp168
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