Associated Papers
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A et al.
Genes, 2022
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Galleni Leão L et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.
Lefebvre R et al.
Plos One, 2013
Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Kossugue PM et al.
Muscle & Nerve, 2007
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