Condition: Malignant hyperpyrexia due to anesthesia
rs118192177 in
RYR1 gene and
Malignant hyperpyrexia due to anesthesia
PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID 9497245 1998 Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.
PMID 10484775 1999 Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
PMID 19919814 2010 Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.
PMID 19648156 2009 Genetic variation in RYR1 and malignant hyperthermia phenotypes.
PMID 23919265 2013 Genotype-phenotype correlations in recessive RYR1-related myopathies.
PMID 12220451 2002 Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
PMID 11575529 2001 North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
PMID 12411788 2002 Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.
PMID 25957634 2015 Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
PMID 23558838 2013 Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
PMID 12208234 2002 Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
PMID 16163667 2005 Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
PMID 12434264 2002 [Current aspects of the diagnosis of malignant hyperthermia].
PMID 14999498 2004 Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene.
PMID 18564801 2008 Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
PMID 25735680 2015 Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.
PMID 23459219 2013 Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells.
PMID 12066726 2002 Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.
PMID 24433488 2014 Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
PMID 18253926 2008 Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
PMID 17483490 2007 Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
PMID 23553787 2013 RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
PMID 19645060 2009 A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.
PMID 22473935 2012 Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.