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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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 RPGR gene cause X-linked cone dystrophy

By Yang Z.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 605-611

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Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP)

By Rowe Peter S. N.   Oudet Claudine L.   Francis Fiona   Sinding Christiane   Pannetier Solange   Econs Mike J.   Strom Tim M.   Meitinger Thomas   Garabedian Michele   David Albert   Macher Marie-Alice   Questiaux Elisabeth   Popowska Ewa   Pronicka Ewa   Read Andrew P.   Mokrzycki Agnes   Glorieux Francis H.   Drezner Marc K.   Hanauer Andre   Lehrach Hans   Goulding Johnathan N.   O'Riordan Jeffrey L. H.  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 539-549

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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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