Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families

Anesthesiology

Volumn 115, Issue 5, 2011, Pages 938-945

  Groom, Linda ^a   Muldoon, Sheila M ^c   Tang, Zhen Zhi ^a   Brandom, Barbara W ^d   Bayarsaikhan, Munkhuu ^c   Bina, Saiid ^c   Lee, Hee Suk ^e   Qiu, Xing ^b   Sambuughin, Nyamkhishig ^c   Dirksen, Robert T ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b UNIVERSITY OF ROCHESTER   (United States)

^c UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^e NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIPYRETIC AGENT; ARGININE; ASPARTIC ACID; BICARBONATE; CAFFEINE; CALCIUM CHANNEL L TYPE; CALCIUM ION; CARNITINE PALMITOYLTRANSFERASE; CARNITINE PALMITOYLTRANSFERASE 2; CREATINE KINASE; CYSTEINE; DANTROLENE; DIAZEPAM; HISTIDINE; KETOROLAC; PARACETAMOL; RYANODINE RECEPTOR 1; RYANODINE RECEPTOR 2; RYANODINE RECEPTOR 3; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; VOLTAGE GATED L TYPE CALCIUM CHANNEL CACNA1S;

ACIDOSIS; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; AUTOPSY; BICARBONATE BLOOD LEVEL; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CHILD; CHROMOSOME 19Q; CLINICAL ARTICLE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; ELECTRON MICROSCOPY; EXON; FATALITY; FEVER; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEAT STRESS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERKALEMIA; INFANT; LOW DRUG DOSE; MALE; MALIGNANT HYPERTHERMIA; MOUSE; MUSCLE CRAMP; MUSCLE HYPOTONIA; MUSCLE RIGIDITY; MUSCLE STIFFNESS; MYOGLOBINURIA; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECTUM TEMPERATURE; RESPIRATORY DISTRESS; SENSITIZATION; SINGLE NUCLEOTIDE POLYMORPHISM; TACHYCARDIA; TACHYPNEA; TIBIALIS ANTERIOR MUSCLE; VOMITING; WILD TYPE;

EID: 80055004388     PISSN: 00033022     EISSN: 15281175     Source Type: Journal    
DOI: 10.1097/ALN.0b013e3182320068     Document Type: Article

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