Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families

Neuromuscular Disorders

Volumn 11, Issue 6-7, 2001, Pages 530-537

  Sambuughin, Nyamkhishig ^a,b   Nelson, Thomas E ^c   Jankovic, Joseph ^d   Xin, Chunlin ^e   Meissner, Gerhard ^e   Mullakandov, Michael ^f   Ji, Jay ^f   Rosenberg, Henry ^g   Sivakumar, Kumaraswamy ^a   Goldfarb, Lev G ^b  

^a BARROW NEUROLOGICAL INSTITUTE   (United States)

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

^c WAKE FOREST UNIVERSITY   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^f BBI Biotech Research Laboratories   (United States)

^g THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Functional analysis of disease causing mutation; Malignant hyperthermia; North American family; Novel ryanodine receptor mutation; South American family

Indexed keywords

ANESTHETIC AGENT; CAFFEINE; HALOTHANE; MUTANT PROTEIN; RYANODINE RECEPTOR; SUXAMETHONIUM;

ADULT; ANESTHESIA; ARTICLE; CLINICAL ARTICLE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HAPLOTYPE; HUMAN; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; ARGENTINA; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MALIGNANT HYPERTHERMIA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RADIOLIGAND ASSAY; RYANODINE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; TRITIUM; UNITED STATES;

EID: 0034892948     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00202-4     Document Type: Article

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