Article
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Human molecular genetics - 15 Jul 2008
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
Abstract excerpt
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 with a muscle-specific role in man and mouse that is poorly understood. No specific treatment exists to date for...
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