Associated Papers
RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.
Sabbatini D et al.
Biomolecules, 2025
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
Suman M et al.
Human Molecular Genetics, 2018
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 › All_Literature_Rev_Patients
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.
Rossi D et al.
Journal of Medical Genetics, 2007
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R et al.
Human Mutation, 2006
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