Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

By Muchir Antoine   Bonne Gisèle   van der Kooi Anneke J.   van Mia   Baas Frank   Bolhuis Pieter A.   de Marianne   Schwartz Ketty  

Human Molecular Genetics, Vol. 9, Iss. 9, 2000-05 ,pp. : 1453-1459

Oxford University Press

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Linkage Analysis in Autosomal Recessive Limb-Girdle Muscular Dystrophy (AR LGMD) Maps a Sixth Form to 5q33–34 ( LGMD2F ) and Indicates That There is at Least One More Subtype of AR LGMD

By Passos-Bueno M. R.   Moreira E. S.   Vainzof M.   Marie S. K.   Zatz M.  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 815-820

Oxford University Press

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A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

By  

Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 2, 2015-03 ,pp. : 92-98

John Wiley & Sons Inc

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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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Missense mutations in COL8A2 , the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

By Kielty C.  

Human Molecular Genetics, Vol. 10, Iss. 21, 2001-10 ,pp. : 2415-2423

Oxford University Press

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