Diagnosis of malignant hyperthermia: A comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree

Journal of Medical Genetics

Volumn 33, Issue 1, 1996, Pages 18-24

  Healy, J M Sandra ^a,c   Quane, Kathleen A ^a   Keating, Katherine E ^a,d   Lehane, Mary ^b   Heffron, James J A ^a   McCarthy, Tommie V ^a  

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b Cork University Hospital ^*  (Ireland)

^c Clare Hall Laboratories ^*  (United Kingdom)

^d BABRAHAM INSTITUTE   (United Kingdom)

Author keywords

In vitro contracture test; Malignant hyperthermia; Ryanodine receptor

Indexed keywords

ANESTHESIA; ARTICLE; CAUSE OF DEATH; CLINICAL ARTICLE; CONTRACTURE; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; INBORN ERROR OF METABOLISM; INTERMETHOD COMPARISON; MALIGNANT HYPERTHERMIA; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCLE METABOLISM; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0030049539     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.1.18     Document Type: Article

References (15)

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