Literature DB >> 1973552

Recent developments in the molecular genetics of malignant hyperthermia: implications for future diagnosis at the DNA level.

T V McCarthy1, J M Healy, M Lehane, J J Heffron.   

Abstract

Molecular genetic linkage studies on the inherited human disorder malignant hyperthermia have resulted in the mapping of the locus for malignant hyperthermia susceptibility (MHS) to the twenty centimorgan genetic interval in the q12-13.2 region of chromosome 19 defined by the anonymous polymorphic DNA markers D19S9 and BCL3. The mapping of the MHS locus to this interval now allows diagnosis of MHS in selected families with an accuracy of 97.5% using closely linked polymorphic DNA markers.

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Year:  1990        PMID: 1973552

Source DB:  PubMed          Journal:  Acta Anaesthesiol Belg        ISSN: 0001-5164


  2 in total

1.  Diagnosis of susceptibility to malignant hyperthermia with flanking DNA markers.

Authors:  S J Healy; J J Heffron; M Lehane; D G Bradley; K Johnson; T V McCarthy
Journal:  BMJ       Date:  1991-11-16

2.  Screening for mutations in the RYR1 gene in families with malignant hyperthermia.

Authors:  Viviane P Muniz; Helga C A Silva; Ana Maria C Tsanaclis; Mariz Vainzof
Journal:  J Mol Neurosci       Date:  2003       Impact factor: 3.444

  2 in total

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