Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy

No effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin. The Mtm1δ4 and Mtm1 p.R69C mice model severely and moderately symptomatic XLMTM, respectively, due to differences in th...

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Main Authors: Lawlor, Michael W., Armstrong, Dustin, Viola, Marissa G., Widrick, Jeffrey J., Meng, Hui, Grange, Robert W., Childers, Martin K., Hsu, Cynthia P., O'Callaghan, Michael, Pierson, Christopher R., Buj-Bello, Anna, Beggs, Alan H.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2013
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3605830/
https://ncbi.nlm.nih.gov/pubmed/23307925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt003
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