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

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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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Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca 2+ -ATPase in myotonic dystrophy type 1

By Kimura Takashi  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2189-2200

Oxford University Press

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Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2197-2200

John Wiley & Sons Inc

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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

By Müller C.R.  

Human Molecular Genetics, Vol. 10, Iss. 25, 2001-12 ,pp. : 2879-2887

Oxford University Press

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