Disease: Malignant hyperthermia susceptibility type 4
- A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article
- A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia
- Adverse effects of drugs on muscle
- AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation
- An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations
- Analysis of human cultured myotubes responses mediated by ryanodine receptor 1
- Arg(615)Cys substitution in pig skeletal ryanodine receptors increases activation of single channels by a segment of the skeletal DHPR II-III loop
- Assessing the pathogenicity of RYR1 variants in malignant hyperthermia
- BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis
- Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala
- Central core disease. Clinical features in 13 patients
- Characterization and temporal development of cores in a mouse model of malignant hyperthermia
- Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia
- Cyclic ADP-ribose induces a larger than normal calcium release in malignant hyperthermia-susceptible skeletal muscle fibers
- Dietary Caffeine Synergizes Adverse Peripheral and Central Responses to Anesthesia in Malignant Hyperthermia Susceptible Mice
- Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
- Discordant light microscopic, electron microscopic, and in vitro contracture study findings in a family with central core disease
- Disordered catecholamine release in pigs susceptible to malignant hyperthermia
- Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?
- Effects of 4-hydroxybenzoic acid methyl ester on the Ca(2+)-related functions of skinned skeletal muscle fibers from the guinea pig
- Effects of meat quality and storage on the breakdown of adenosine triphosphate in muscle from swine
- Effects of the phosphodiesterase-III inhibitor enoximone on skeletal muscle specimens from malignant hyperthermia susceptible patients
- Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR
- Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene
- Fiber-type specific caffeine sensitivities in normal human skinned muscle fibers
- Functional analysis of newly identified RYR1 variants in patients susceptible to malignant hyperthermia
- Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47
- Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice
- Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia
- Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia
- Functional Characterization of Endogenously Expressed Human RYR1 Variants
- Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia
- Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle
- Genetic epidemiology of malignant hyperthermia in the UK
- Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2)
- Halothane modulation of skeletal muscle ryanodine receptors: dependence on Ca2+, Mg2+, and ATP
- High-Fat Diet Impairs Muscle Function and Increases the Risk of Environmental Heatstroke in Mice
- Histomorphologic examination of skeletal muscle preparations does not differentiate between malignant hyperthermia-susceptible and -normal patients
- Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals
- Hyperthermic reaction in the perioperative phase in 2 children with acute lymphoblastic leukemia of B-cell type
- In vitro 31P-magnetic resonance spectroscopy of muscle extracts in malignant hyperthermia-susceptible patients
- In vitro and in vivo effects of the phosphodiesterase-III inhibitor enoximone on malignant hyperthermia-susceptible swine
- Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation
- Increasing the number of diagnostic mutations in malignant hyperthermia
- Intracellular calcium leak lowers glucose storage in human muscle, promoting hyperglycemia and diabetes
- Is there a link between malignant hyperthermia and exertional heat illness?
- Lymphocyte-based determination of susceptibility to malignant hyperthermia: a pilot study in swine
- Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore
- Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United States
- Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
- Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene
- Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options
- Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle
- Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with <em>RYR1</em> -Related Congenital Centronuclear Myopathy
- Metabolism of monoamines in malignant hyperthermia-susceptible pigs
- Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin
- Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met
- Mild form of malignant hyperthermia? OR, ABNORMAL REACTION To succinyldicholine?
- Mitochondrial-nuclear crosstalk, haplotype and copy number variation distinct in muscle fiber type, mitochondrial respiratory and metabolic enzyme activities
- Molecular pathology of malignant hyperthermia and central core disease
- Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility
- Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility
- Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)
- Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia
- Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region
- Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort
- No evidence of mutations in the CACNA1S gene in the UK malignant hyperthermia population
- Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia
- North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations
- Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families
- Novel ryanodine receptor mutation that may cause malignant hyperthermia
- Orthotopic liver transplantation in a malignant hyperthermia susceptible patient
- Oxidative capacity and fatigability in run-trained malignant hyperthermia-susceptible mice
- Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice
- Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes
- Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse
- PharmGKB summary: very important pharmacogene information for CACNA1S
- Phosphodiesterase-III-inhibition with amrinone leads to contracture development in skeletal muscle preparations of malignant hyperthermia susceptible swine
- Prevalence of exertional rhabdomyolysis in endurance horses in the Pacific Northwestern United States
- Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95)
- Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States
- RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre
- Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia
- Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility
- Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report
- Skeletal muscle excitation-contraction coupling. II. Plasmalemma voltage control of intact bundle contractile properties in normal and malignant hyperthermic muscles
- Skeletal muscle junctional membrane protein content in pigs with different ryanodine receptor genotypes
- Skeletal muscle ryanodine receptor mutations associated with malignant hyperthermia showed enhanced intensity and sensitivity to triggering drugs when expressed in human embryonic kidney cells
- Slow calcium current is not reduced in malignant hyperthermic porcine myotubes
- TENS-induced pain control in a malignant hyperthermia-susceptible patient
- The differential effect of halothane and 1,2-dichlorohexafluorocyclobutane on in vitro muscle contractures of patients susceptible to malignant hyperthermia
- The genetics of malignant hyperthermia
- The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
- The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes
- The role of ion-regulatory membrane proteins of excitation-contraction coupling and relaxation in inherited muscle diseases
- The use of amide local anesthetics in patients susceptible to malignant hyperthermia
- Transient Receptor Potential Cation Channels and Calcium Dyshomeostasis in a Mouse Model Relevant to Malignant Hyperthermia
- Volatile anesthetics inhibit dihydropyridine binding to malignant hyperthermia-susceptible and normal pig skeletal muscle membranes