A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

By Malicdan May Christine V.   Noguchi Satoru   Nonaka Ikuya   Hayashi Yukiko K.   Nishino Ichizo  

Human Molecular Genetics, Vol. 16, Iss. 2, 2007-01 ,pp. : 115-128

Oxford University Press

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A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation

By Sjöberg Gunnar   Saavedra-Matiz Carlos A.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2191-2198

Oxford University Press

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A mutation in α-tropomyosin slow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

By Hardeman E.C.  

Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 317-328

Oxford University Press

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Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene ( COL6A3 ) in a family with Bethlem myopathy

By Speer M.C.  

Human Molecular Genetics, Vol. 7, Iss. 5, 1998-05 ,pp. : 807-812

Oxford University Press

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The kyphoscoliosis ( ky ) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein

By van Mier P.  

Human Molecular Genetics, Vol. 10, Iss. 1, 2001-01 ,pp. : 9-16

Oxford University Press

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