Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells

By Esapa Christopher T.  

Human Molecular Genetics, Vol. 14, Iss. 2, 2005-01 ,pp. : 295-305

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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Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy

By McNally Elizabeth M.   Duggan David   Rafael Gorospe J.   Bönnemann Carsten G.   Fanin Marina   Pegoraro Elena   Lidov Hart G. W.   Noguchi Satoru   Ozawa Eijiro   Finkel Richard S.   Cruse Robert P.   Angelini Corrado   Kunkel Louis M.   Hoffman Eric P.  

Human Molecular Genetics, Vol. 5, Iss. 11, 1996-11 ,pp. : 1841-1847

Oxford University Press

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Novel mutations and genotype–phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)

By Kondo-Iida Eri  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2303-2309

Oxford University Press

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A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice

By Kobuke Kazuhiro   Piccolo Federica   Garringer Keith W.   Moore Steven A.   Sweezer Eileen   Yang Baoli   Campbell Kevin P.  

Human Molecular Genetics, Vol. 17, Iss. 9, 2008-05 ,pp. : 1201-1213

Oxford University Press

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