A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

By Monnier Nicole  

Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1171-1178

Oxford University Press

Access to resources Recommend Favorite

A deletion mutation in the βA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

By Qi Yanhua   Jia Hongyan   Huang Shangzhi   Lin Hui   Gu Jingzhi   Su Hong   Zhang Tieying   Gao Ya   Qu Lijun   Li Dandan   Li Ying  

Human Genetics, Vol. 114, Iss. 2, 2004-01 ,pp. : 192-197

Springer Publishing Company

Access to resources Recommend Favorite

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

By Monnier N.  

Human Molecular Genetics, Vol. 10, Iss. 22, 2001-10 ,pp. : 2581-2592

Oxford University Press

Access to resources Recommend Favorite

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

By Litt M.  

Human Molecular Genetics, Vol. 7, Iss. 3, 1998-03 ,pp. : 471-474

Oxford University Press

Access to resources Recommend Favorite

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

Access to resources Recommend Favorite