Ryanodine Receptor Type 1 Gene Variants in the Malignant Hyperthermia-Susceptible Population of the United States | Zendy

Barbara W. Brandom | Zendy; Saiid Bina | Zendy; Cynthia A. Wong | Zendy; Tarina Wallace | Zendy; Mihaela Visoiu | Zendy; Paul J. Isackson | Zendy; Georgirene D. Vladutiu | Zendy; Nyamkhishig Sambuughin | Zendy; Sheila M. Muldoon | Zendy

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Ryanodine 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

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.

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