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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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 X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

By Schachter S.C.  

Human Molecular Genetics, Vol. 10, Iss. 17, 2001-08 ,pp. : 1775-1783

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

Oxford University Press

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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

Oxford University Press

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