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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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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-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

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-Sarcoglycan compensates for lack of α-sarcoglycan in a mouse model of limb-girdle muscular dystrophy

By Imamura Michihiro  

Human Molecular Genetics, Vol. 14, Iss. 6, 2005-03 ,pp. : 775-783

Oxford University Press

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