AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

Myotubular myopathy (XLMTM, OMIM 310400) is a severe congenital muscular disease due to mutations in the myotubularin gene (MTM1) and characterized by the presence of small myofibers with frequent occurrence of central nuclei. Myotubularin is a ubiquitously expressed phosphoinositide phosphatase wit...

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Main Authors: Buj-Bello, Anna, Fougerousse, Françoise, Schwab, Yannick, Messaddeq, Nadia, Spehner, Danièle, Pierson, Christopher R., Durand, Muriel, Kretz, Christine, Danos, Olivier, Douar, Anne-Marie, Beggs, Alan H., Schultz, Patrick, Montus, Marie, Denèfle, Patrice, Mandel, Jean-Louis
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2008
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2441725/
https://ncbi.nlm.nih.gov/pubmed/18434328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn112
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