title: Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
abstract: Central core disease (CCD) of muscle is an inherited myopathy which is closely associated with malignant hyperthermia (MH) in humans. CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH. Mutation screening of RYR1 has led to the identification of two previously undescribed mutations in different CCD pedigrees. One of these mutations was also detected in an unrelated MH pedigree whose members are asymptomatic of CCD. The data suggest a model to explain how a single mutation may result in two apparently distinct clinical phenotypes.
authors.affiliation: Department of Biochemistry, University College, Cork, Ireland.
authors.forename: K A
authors.initials: KA
authors.lastname: Quane
authors.forename: J M
authors.initials: JM
authors.lastname: Healy
authors.forename: K E
authors.initials: KE
authors.lastname: Keating
authors.forename: B M
authors.initials: BM
authors.lastname: Manning
authors.forename: F J
authors.initials: FJ
authors.lastname: Couch
authors.forename: L M
authors.initials: LM
authors.lastname: Palmucci
authors.forename: C
authors.initials: C
authors.lastname: Doriguzzi
authors.forename: T H
authors.initials: TH
authors.lastname: Fagerlund
authors.forename: K
authors.initials: K
authors.lastname: Berg
authors.forename: H
authors.initials: H
authors.lastname: Ording
mesh_terms: D000293:Adolescent; D000818:Animals; D015220:Calcium Channels / Q000235:genetics*; D002675:Child, Preschool; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics*; D008928:Mitochondria / Q000473:pathology; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D017696:Myopathies, Nemaline / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011817:Rabbits; D019837:Ryanodine Receptor Calcium Release Channel; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity; D013552:Swine
chemical_list: D015220:Calcium Channels; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel