Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

doi:10.1126/scitranslmed.3007523

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Article

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.

Science translational medicine - 22 Jan 2014

Childers Martin K, Joubert Romain, Poulard Karine, Moal Christelle, Grange Robert W, Doering Jonathan A, Lawlor Michael W, Rider Branden E, Jamet Thibaud, Danièle Nathalie, Martin Samia, Rivière Christel, Soker Thomas, Hammer Caroline, Van Wittenberghe Laetitia, Lockard Mandy, Guan Xuan, Goddard Melissa, Mitchell Erin, Barber Jane, Williams J Koudy, Mack David L, Furth Mark E, Vignaud Alban, Masurier Carole, Mavilio Fulvio, Moullier Philippe, Beggs Alan H, Buj-Bello Anna

Abstract excerpt

Loss-of-function mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy (XLMTM), a fatal, congenital pediatric disease that affects the entire skeletal musculature. Systemic administration of a single dose of a recombinant serotype 8 adeno-associated virus (AAV8) vector expressing murine myotubularin to Mtm1-deficient knockout mice at the onset or at late stages of the disease resulted in...

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PMID: 24452262
DOI: 10.1126/scitranslmed.3007523
PMCID: PMC4105197

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MTM1

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