RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes

Human Mutation

Volumn 20, Issue 2, 2002, Pages 88-97

  Robinson, Rachel L ^a   Brooks, Collin ^a   Brown, Sarah L ^a   Ellis, F Richard ^a   Halsall, P Jane ^a   Quinnell, Rupert J ^b   Shaw, Marie Anne ^b   Hopkins, Philip M ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

CCD; Central core disease; In vitro contracture test; IVCT; Malignant hyperthermia; MH; MHS1; RYR1

Indexed keywords

CAFFEINE; HALOTHANE; INHALATION ANESTHETIC AGENT; NEUROMUSCULAR DEPOLARIZING AGENT; RYANODINE; RYANODINE RECEPTOR; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MALIGNANT HYPERTENSION; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENCE; UNITED KINGDOM;

ANESTHETICS, INHALATION; CAFFEINE; CENTRAL NERVOUS SYSTEM STIMULANTS; EXONS; FEMALE; GREAT BRITAIN; HALOTHANE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MUSCLE, SKELETAL; MUTATION; MYOPATHY, CENTRAL CORE; PHENOTYPE; PREVALENCE; RETROSPECTIVE STUDIES; RYANODINE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 0036323498     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10098     Document Type: Article

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