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Page 1
Malignant hyperthermia: a review.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2015 Aug 4;10:93. doi: 10.1186/s13023-015-0310-1. Orphanet J Rare Dis. 2015. PMID: 26238698 Free PMC article. Review.
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane, isoflurane and the depolarizing muscle relaxant succinylcholine, a
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to pot
Skeletal muscle Ca(V)1.1 channelopathies.
Flucher BE. Flucher BE. Pflugers Arch. 2020 Jul;472(7):739-754. doi: 10.1007/s00424-020-02368-3. Epub 2020 Mar 28. Pflugers Arch. 2020. PMID: 32222817 Free PMC article. Review.
To date, four types of muscle diseases are known that can be linked to mutations in the CACNA1S gene or to splicing defects. These are hypo- and normokalemic periodic paralysis, malignant hyperthermia susceptibility, Ca(V)1.1-related myopathies, …
To date, four types of muscle diseases are known that can be linked to mutations in the CACNA1S gene or to splicing defects. These are hypo- …
Malignant Hyperthermia Susceptibility and Related Diseases.
Litman RS, Griggs SM, Dowling JJ, Riazi S. Litman RS, et al. Anesthesiology. 2018 Jan;128(1):159-167. doi: 10.1097/ALN.0000000000001877. Anesthesiology. 2018. PMID: 28902673 Free article. Review. No abstract available.
Malignant hyperthermia.
Rosenberg H, Davis M, James D, Pollock N, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2007 Apr 24;2:21. doi: 10.1186/1750-1172-2-21. Orphanet J Rare Dis. 2007. PMID: 17456235 Free PMC article. Review.
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, i
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to pot
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Lawal TA, et al. Skelet Muscle. 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. Skelet Muscle. 2020. PMID: 33190635 Free PMC article. Review.
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyper
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscl …
Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.
Beam TA, Loudermilk EF, Kisor DF. Beam TA, et al. Physiol Genomics. 2017 Feb 1;49(2):81-87. doi: 10.1152/physiolgenomics.00126.2016. Epub 2016 Dec 23. Physiol Genomics. 2017. PMID: 28011884 Review.
A review of the pharmacogenetics (PGt) and pathophysiology of calcium voltage-gated channel subunit alpha1 S (CACNA1S) mutations in malignant hyperthermia susceptibility type 5 (MHS5; MIM #60188) is presented. ...In addition to ryanodine receptor 1 (RY …
A review of the pharmacogenetics (PGt) and pathophysiology of calcium voltage-gated channel subunit alpha1 S (CACNA1S) mutations in malig
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ. Lawal TA, et al. Orphanet J Rare Dis. 2020 May 7;15(1):113. doi: 10.1186/s13023-020-01384-x. Orphanet J Rare Dis. 2020. PMID: 32381029 Free PMC article. Review.
BACKGROUND: Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum …
BACKGROUND: Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant
Malignant hyperthermia: still an issue for neuromuscular diseases?
De Wel B, Claeys KG. De Wel B, et al. Curr Opin Neurol. 2018 Oct;31(5):628-634. doi: 10.1097/WCO.0000000000000592. Curr Opin Neurol. 2018. PMID: 30015672 Review.
In contrast, several neuromuscular diseases that were long thought to be linked to MHS are now known to cause malignant hyperthermia-like reactions instead of malignant hyperthermia. ...SUMMARY: This review provides a summary of current evidence linkin …
In contrast, several neuromuscular diseases that were long thought to be linked to MHS are now known to cause malignant hypertherm
Review of RyR1 pathway and associated pathomechanisms.
Witherspoon JW, Meilleur KG. Witherspoon JW, et al. Acta Neuropathol Commun. 2016 Nov 17;4(1):121. doi: 10.1186/s40478-016-0392-6. Acta Neuropathol Commun. 2016. PMID: 27855725 Free PMC article. Review.
Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Mutations in the RYR1 gene yield RyR1 protein dysfunction that manifests clinically as RYR1-related congenital myopathies (RYR1-RM) and/or ma
Ryanodine receptor isoform-1 (RyR1) is a major calcium channel in skeletal muscle important for excitation-contraction coupling. Muta …
Calsequestrin-1: a new candidate gene for malignant hyperthermia and exertional/environmental heat stroke.
Protasi F, Paolini C, Dainese M. Protasi F, et al. J Physiol. 2009 Jul 1;587(Pt 13):3095-100. doi: 10.1113/jphysiol.2009.171967. Epub 2009 May 5. J Physiol. 2009. PMID: 19417098 Free PMC article. Review.
Malignant hyperthermia (MH) and exertional/environmental heat stroke (EHS) in humans present as similar life threatening crises triggered by volatile anaesthetics and strenuous exercise and/or high temperature, respectively. Many families (70-80%) diagnosed with MH
Malignant hyperthermia (MH) and exertional/environmental heat stroke (EHS) in humans present as similar life threatening crise
44 results