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
Novel RYR1 missense mutations in six Chinese patients with central core disease.
Gu M et al.
Neuroscience Letters, 2014
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
23919265 (PubMed )
Supplement: 1750-1172-8-117-S1.xlsx › AR_Cases_in_Literature
Central core disease is due to RYR1 mutations in more than 90% of patients.
Wu S et al.
Brain : a Journal of Neurology, 2006
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2004
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