Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.
Y NilipourS NafissiA E TjustG RavenscroftH Hossein Nejad NedaiR L TaylorV VarastehF Pedrosa DomellöfM ZangiS H TonekaboniM OlivéK KiiskiLydia SagathM R DavisN G LaingHoma TajsharghiPublished in: European journal of neurology (2018)
The results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain, and the subcellular localization of RYR1 and RYR3 in human skeletal muscle.