Assessing the pathogenicity of RYR1 variants in malignant hyperthermia
Author:
Publisher
Elsevier BV
Subject
Anesthesiology and Pain Medicine
Link
http://academic.oup.com/bja/article-pdf/118/4/533/13067526/aex042.pdf
Reference34 articles.
1. Malignant hyperthermia—pharmacology of triggering;Hopkins;Br J Anaesth,2011
2. Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling;Weiss;Am J Physiol Cell Physiol,2004
3. The role of CACNA1S in predisposition to malignant hyperthermia;Carpenter;BMC Med Genet,2009
4. Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor;Eltit;Proc Natl Acad Sci U S A,2012
5. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy;Horstick;Nat Commun,2013
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