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A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity
Download from www.ncbi.nlm.nih.govCongenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm
Download from edoc.unibas.chLoss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45
Download from www.pnas.orgCalumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum
Download from www.researchgate.netMolecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
Download from academic.oup.comFunctional effects of mutations identified in patients with multiminicore disease
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