Variant: rs193922839 

    present in Gene: RYR1
    present in Chromosome: 19
    Position on Chromosome: 38534775
    Alleles of this Variant: G/A;C

rs193922839 in RYR1 gene and Central Core Myopathy (disorder) PMID 11113224 2000 A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.

PMID 11709545 2001 Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

PMID 8220422 1993 A mutation in the human ryanodine receptor gene associated with central core disease.

PMID 12937085 2003 Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

PMID 27586648 2016 Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.

PMID 12136074 2002 Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

PMID 10097181 1999 A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.

PMID 23558838 2013 Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

PMID 21674524 2011 Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.

PMID 24561095 2014 Novel RYR1 missense mutations in six Chinese patients with central core disease.

PMID 17204054 2007 Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.

PMID 12565913 2003 Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

PMID 20142353 2010 Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.

PMID 18312400 2008 Novel RYR1 missense mutation causes core rod myopathy.

PMID 7829078 1994 Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.

PMID 26381711 2015 Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.

PMID 9497245 1998 Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

PMID 8220423 1993 Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.

PMID 12112081 2002 A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

rs193922839 in RYR1 gene and Malignant hyperpyrexia due to anesthesia 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.

rs193922839 in RYR1 gene and Neuromuscular Diseases PMID 17483490 2007 Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

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.

PMID 23553787 2013 RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

PMID 18253926 2008 Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.