Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation

Clinical Genetics

Volumn 60, Issue 2, 2001, Pages 117-124

  Rueffert, H ^a   Olthoff, D ^a   Deutrich, C ^a   Froster, U G ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Arg614Cys mutation; Genotype; Malignant hyperthemia; Phenotype; Ryanodine receptor

Indexed keywords

ARGININE; CYSTEINE; CYTIDINE; RYANODINE RECEPTOR; THYMINE;

ARTICLE; CLINICAL GENETICS; CLINICAL PROTOCOL; CONTROLLED STUDY; COST BENEFIT ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DISEASE CARRIER; DISEASE CLASSIFICATION; EUROPE; FAMILY HEALTH; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GERMANY; HUMAN; HUMAN CELL; IN VITRO STUDY; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MALIGNANT HYPERTHERMIA; MOLECULAR GENETICS; MUSCLE CONTRACTURE; PATIENT COMPLIANCE; PHENOTYPE; PRIORITY JOURNAL; SKELETAL MUSCLE; STANDARDIZATION;

CAFFEINE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HALOTHANE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MUSCLE CONTRACTION; MUSCLE, SKELETAL; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 0034859551     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.600205.x     Document Type: Article

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