Mutations in the fukutin-related protein gene ( FKRP ) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

By Burgunder J-M.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2851-2859

Oxford University Press

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Functional requirements for fukutin-related protein in the Golgi apparatus

By Blake D.J.  

Human Molecular Genetics, Vol. 11, Iss. 26, 2002-12 ,pp. : 3319-3331

Oxford University Press

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Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

By Baker Naomi L.  

Human Molecular Genetics, Vol. 14, Iss. 2, 2005-01 ,pp. : 279-293

Oxford University Press

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Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies

By Chan Yiumo Michael   Keramaris-Vrantsis Elizabeth   Lidov Hart G.   Norton James H.   Zinchenko Natalia   Gruber Helen E.   Thresher Randy   Blake Derek J.   Ashar Jignya   Rosenfeld Jeffrey   Lu Qi L.  

Human Molecular Genetics, Vol. 19, Iss. 20, 2010-10 ,pp. : 3995-4006

Oxford University Press

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan

By Longman Cheryl  

Human Molecular Genetics, Vol. 12, Iss. 21, 2003-11 ,pp. : 2853-2861

Oxford University Press

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