Associated Papers
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
40869992 (PubMed )
Supplement: genes-16-00944-s001.zip › genes-3772861-supplementary.xlsx › S1_RYR1_and_CACNA1S_variants
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33767344 (PubMed )
Supplement: NIHMS1689967-supplement-Large_Excel_File.xls › Table_S2
Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia.
Noda Y et al.
Journal of Anesthesia, 2020
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.
Zullo A et al.
Biomed Research International, 2019
A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia.
Sano K et al.
Journal of the Neurological Sciences, 2015
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
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