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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Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)

By Bönnemann Carsten G.   Passos-Bueno M. Rita   McNally Elizabeth M.   Vainzof Mariz   Moreira Eloísa de Sá   Marie Suely K.   Pavanello Rita C. M.   Noguchi Satoru   Ozawa Eijiro   Zatz Mayana   Kunkel Louis M.  

Human Molecular Genetics, Vol. 5, Iss. 12, 1996-12 ,pp. : 1953-1961

Oxford University Press

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Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in β -sarcoglycan-deficient mice

By Araishi Kenji  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1589-1598

Oxford University Press

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-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy

By Wheeler M.T.  

Human Molecular Genetics, Vol. 11, Iss. 18, 2002-06 ,pp. : 2147-2154

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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