Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family

British Journal of Anaesthesia

Volumn 87, Issue 2, 2001, Pages 240-245

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

^a UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Complications, malignant hyperthermia; Genetic factors, malignant hyperthermia; Muscle skeletal, in vitro contracture test

Indexed keywords

ALFENTANIL; ARGININE; CARBON DIOXIDE; CYSTEINE; CYTOSINE; DANTROLENE; HALOTHANE; NITROUS OXIDE; OXYGEN; RYANODINE RECEPTOR; SUXAMETHONIUM; THIOPENTAL; THYMINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DATA ANALYSIS; DISEASE PREDISPOSITION; DISEASE SEVERITY; FAMILY; GENE MUTATION; GENE SEGREGATION; GENERAL ANESTHESIA; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; GERMANY; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; IN VITRO STUDY; MALE; MALIGNANT HYPERTHERMIA; MUSCLE BIOPSY; MUSCLE CONTRACTURE; NUCLEIC ACID BASE SUBSTITUTION; PARENT; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; SIBLING;

EID: 0034871590     PISSN: 00070912     EISSN: None     Source Type: Journal    
DOI: 10.1093/bja/87.2.240     Document Type: Article

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