Characterization of Mutations in the Myotubularin Gene in Twenty Six Patients with X-Linked Myotubular Myopathy

By de Gouyon Beatrice M.   Zhao Wei   Laporte Jocelyn   Mandel Jean-Louis   Metzenberg Aida   Herman Gail E.  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1499-1504

Oxford University Press

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Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

By Blondeau François   Laporte Jocelyn   Bodin Stephane  

Human Molecular Genetics, Vol. 9, Iss. 15, 2000-09 ,pp. : 2223-2229

Oxford University Press

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Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle

By Joubert Romain   Vignaud Alban   Le Mickaël   Moal Christelle   Messaddeq Nadia   Buj-Bello Anna  

Human Molecular Genetics, Vol. 22, Iss. 9, 2013-05 ,pp. : 1856-1866

Oxford University Press

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

By 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.  

Human Molecular Genetics, Vol. 22, Iss. 8, 2013-04 ,pp. : 1525-1538

Oxford University Press

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Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy

By Laporte Jocelyn  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1505-1511

Oxford University Press

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