Open AccessRyanodine Receptor Type 1 Gene Variants in the Malignant Hyperthermia-Susceptible Population of the United States
Author(s) -
Barbara W. Brandom,
Saiid Bina,
Cynthia A. Wong,
Tarina Wallace,
Mihaela Visoiu,
Paul J. Isackson,
Georgirene D. Vladutiu,
Nyamkhishig Sambuughin,
Sheila M. Muldoon
Publication year - 2013
Publication title -
anesthesia and analgesia/anesthesia and analgesia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.404
H-Index - 201
eISSN - 1526-7598
pISSN - 0003-2999
DOI - 10.1213/ane.0b013e31828a71ff
Subject(s) - ryr1 , malignant hyperthermia , ryanodine receptor , genetics , central core disease , medicine , muscle contracture , gene , contracture , biology , pathology , receptor , anatomy
Mutations in the ryanodine receptor type 1 gene (RYR1) that encodes the skeletal muscle-specific intracellular calcium (Ca(2+)) release channel are a cause of malignant hyperthermia (MH). In this study, we examined RYR1 mutations in a large number of North American MH-susceptible (MHS) subjects without prior genetic diagnosis.