Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2

Nature ◽  
1990 ◽  
Vol 343 (6258) ◽  
pp. 562-564 ◽  
Author(s):  
Tommie V. McCarthy ◽  
J. M. Sandra Healy ◽  
James J. A. Heffron ◽  
Mary Lehane ◽  
Thomas Deufel ◽  
...  
1990 ◽  
Vol 18 (2) ◽  
pp. 326-326 ◽  
Author(s):  
J. M. SANDRA HEALY ◽  
MARY LEHANE ◽  
JAMES J. A. HEFFRON ◽  
MARTIN FARRELL ◽  
KEITH JOHNSON ◽  
...  

Genomics ◽  
1992 ◽  
Vol 14 (3) ◽  
pp. 562-566 ◽  
Author(s):  
R.C. Levitt ◽  
A. Olckers ◽  
S. Meyers ◽  
J.E. Fletcher ◽  
H. Rosenberg ◽  
...  

Diabetes ◽  
1997 ◽  
Vol 46 (5) ◽  
pp. 876-881 ◽  
Author(s):  
L. Ji ◽  
M. Malecki ◽  
J. H. Warram ◽  
Y. Yang ◽  
S. S. Rich ◽  
...  

2020 ◽  
Vol 21 (17) ◽  
pp. 1207-1215
Author(s):  
Jordan F Baye ◽  
Natasha J Petry ◽  
Shauna L Jacobson ◽  
Michelle M Moore ◽  
Bethany Tucker ◽  
...  

Aim: This manuscript describes implementation of clinical decision support for providers concerned with perioperative complications of malignant hyperthermia susceptibility. Materials & methods: Clinical decision support for malignant hyperthermia susceptibility was implemented in 2018 based around our pre-emptive genotyping platform. We completed a brief descriptive review of patients who underwent pre-emptive testing, focused particularly on RYR1 and CACNA1S genes. Results: To date, we have completed pre-emptive genetic testing on more than 10,000 patients; 13 patients having been identified as a carrier of a pathogenic or likely pathogenic variant of RYR1 or CACNA1S. Conclusion: An alert system for malignant hyperthermia susceptibility – as an extension of our pre-emptive genomics platform – was implemented successfully. Implementation strategies and lessons learned are discussed herein.


1987 ◽  
Vol 66 (4) ◽  
pp. 547-550 ◽  
Author(s):  
Ronald D. Miller ◽  
MARILYN GREEN LARACH ◽  
HENRY ROSENBERG ◽  
DAVID R. LARACH ◽  
A. MICHAEL BROENNLE

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