Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.
about
Malignant hyperthermia: a reviewMalignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibilityAccelerated activation of SOCE current in myotubes from two mouse models of anesthetic- and heat-induced sudden death.From the Journal archives: hereditary aspects of malignant hyperthermia.AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation.Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damageAntioxidants protect calsequestrin-1 knockout mice from halothane- and heat-induced sudden death.Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.Unexpected MH deaths without exposure to inhalation anesthetics in pediatric patients.Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.Repeated nonanesthetic malignant hyperthermia reactions in a child.Statin-induced muscle toxicity and susceptibility to malignant hyperthermia and other muscle diseases: a population-based case-control study including 1st and 2nd degree relatives.A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene.Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.Aerobic Training Prevents Heatstrokes in Calsequestrin-1 Knockout Mice by Reducing Oxidative Stress.Correlation of phenotype with genotype and protein structure in RYR1-related disordersExercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations
P2860
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P2860
Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.
description
2011 nî lūn-bûn
@nan
2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
name
Identical de novo mutation in ...... mia in two unrelated families.
@ast
Identical de novo mutation in ...... mia in two unrelated families.
@en
Identical de novo mutation in ...... mia in two unrelated families.
@nl
type
label
Identical de novo mutation in ...... mia in two unrelated families.
@ast
Identical de novo mutation in ...... mia in two unrelated families.
@en
Identical de novo mutation in ...... mia in two unrelated families.
@nl
prefLabel
Identical de novo mutation in ...... mia in two unrelated families.
@ast
Identical de novo mutation in ...... mia in two unrelated families.
@en
Identical de novo mutation in ...... mia in two unrelated families.
@nl
P2093
P2860
P1433
P1476
Identical de novo mutation in ...... mia in two unrelated families.
@en
P2093
Barbara W Brandom
Hee-Suk Lee
Linda Groom
Munkhuu Bayarsaikhan
Nyamkhishig Sambuughin
Robert T Dirksen
Saiid Bina
Sheila M Muldoon
Zhen Zhi Tang
P2860
P304
P356
10.1097/ALN.0B013E3182320068
P407
P577
2011-11-01T00:00:00Z