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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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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A Cysteine 3340 Substitution in the Dystroglycan-Binding Domain of Dystrophin Associated with Duchenne Muscular Dystrophy, Mental Retardation and Absence of the ERG b-Wave

By Lenk Uwe  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 973-975

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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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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