Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

By Lamandé S.R.  

Human Molecular Genetics, Vol. 7, Iss. 6, 1998-06 ,pp. : 981-989

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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Skeletal muscle repair in a mouse model of nemaline myopathy

By Sanoudou Despina   Corbett Mark A.   Han Mei   Ghoddusi Majid   Nguyen Mai-Anh T.   Vlahovich Nicole   Hardeman Edna C.  

Human Molecular Genetics, Vol. 15, Iss. 17, 2006-09 ,pp. : 2603-2612

Oxford University Press

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Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37

By Speer Marcy C.  

Human Molecular Genetics, Vol. 5, Iss. 7, 1996-01 ,pp. : 1043-1046

Oxford University Press

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Mitochondrial myopathy induces a starvation-like response

By Tyynismaa Henna   Carroll Christopher J.   Raimundo Nuno   Ahola-Erkkil Sofia   Wenz Tina   Ruhanen Heini   Guse Kilian   Hemminki Akseli   Peltola-Mjsund Katja E.   Tulkki Valtteri   Orei Matej   Moraes Carlos T.   Pietilinen Kirsi   Hovatta Iiris   Suomalainen Anu  

Human Molecular Genetics, Vol. 19, Iss. 20, 2010-10 ,pp. : 3948-3958

Oxford University Press

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