An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

By Monnier Nicole  

Human Molecular Genetics, Vol. 9, Iss. 18, 2000-11 ,pp. : 2599-2608

Oxford University Press

Access to resources Recommend Favorite

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

By  

Sexual Development, Vol. 10, Iss. 1, 2016-04 ,pp. : 16-22

Karger

Access to resources Recommend Favorite

The mutation of Pro to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca ATPase (SERCA1) and is associated with Brody disease

By Odermatt Alex   Barton Kimby   Khanna Vijay K.   Mathieu Jean   Escolar Diana   Kuntzer Thierry   Karpati George   MacLennan David H.  

Human Genetics, Vol. 106, Iss. 5, 2000-05 ,pp. : 482-491

Springer Publishing Company

Access to resources Recommend Favorite

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

By Durieux Anne-Ccile   Vignaud Alban   Prudhon Bernard   Viou Mai Thao   Beuvin Maud   Vassilopoulos Stphane   Fraysse Bodval   Ferry Arnaud   Lain Jeanne   Romero Norma B.   Guicheney Pascale   Bitoun Marc  

Human Molecular Genetics, Vol. 19, Iss. 24, 2010-12 ,pp. : 4820-4836

Oxford University Press

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite