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

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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

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Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development

By Tachikawa M.  

Human Molecular Genetics, Vol. 12, Iss. 12, 2003-06 ,pp. : 1449-1459

Oxford University Press

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Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

By Raben Nina   Hill Victoria   Shea Lauren   Takikita Shoichi   Baum Rebecca   Mizushima Noboru   Ralston Evelyn   Plotz Paul  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3897-3908

Oxford University Press

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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

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