On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

By Xue Z.  

Human Molecular Genetics, Vol. 12, Iss. 6, 2003-03 ,pp. : 657-669

Oxford University Press

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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

By Schrder Rolf   Goudeau Bertrand   Simon Monique Casteras   Fischer Dirk   Eggermann Thomas   Clemen Christoph S.   Li Zhenlin   Reimann Jens   Xue Zhigang   Rudnik-Schneborn Sabine   Zerres Klaus   van der Ven Peter F. M.   Frst Dieter O.   Kunz Wolfram S.   Vicart Patrick  

Human Molecular Genetics, Vol. 16, Iss. 23, 2007-12 ,pp. : 2989-2990

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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De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

By Klauke Baerbel   Kossmann Sabine   Gaertner Anna   Brand Kristina   Stork Ines   Brodehl Andreas   Dieding Mareike   Walhorn Volker   Anselmetti Dario   Gerdes Dsire   Bohms Birte   Schulz Uwe   zu Knyphausen Edzard   Vorgerd Matthias   Gummert Jan   Milting Hendrik  

Human Molecular Genetics, Vol. 19, Iss. 23, 2010-12 ,pp. : 4595-4607

Oxford University Press

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Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro

By Kramerova I.   Kudryashova E.   Spencer Melissa J.  

Human Molecular Genetics, Vol. 13, Iss. 13, 2004-07 ,pp. : 1373-1388

Oxford University Press

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