Central core disease is due to RYR1 mutations in more than 90% of patients.
about
Central core diseaseMalignant hyperthermiaMalignant hyperthermia: a reviewCongenital myopathies: an updateApproach to the diagnosis of congenital myopathiesReview of RyR1 pathway and associated pathomechanismsDiagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportBasal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal RegionMulti-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathyMyofibrillar disorganization characterizes myopathy of camptocormia in Parkinson's disease.Novel pathogenic variants and genes for myopathies identified by whole exome sequencingStressed out: the skeletal muscle ryanodine receptor as a target of stressRyanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.Multi-minicore DiseaseCoexistence of central nucleus, cores, and rods: Diagnostic relevance.Genotype-phenotype correlations in recessive RYR1-related myopathies.Consensus statement on standard of care for congenital myopathies.Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.Genetics of neuromuscular disorders.Core myopathies and malignant hyperthermia susceptibility: a review.A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings.RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Clinical utility gene card for: Multi-minicore disease.Clinical utility gene card for: Central core disease.Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant HyperthermiaPotassium dependent rescue of a myopathy with core-like structures in mouse.Associations of biochemical changes and maternal traits with mutation 1843 (C>T) in the RYR1 gene as a common cause for porcine stress syndrome.State of the art in hereditary muscle channelopathies.Extension of Health Span and Life Span in Drosophila by S107 Requires the calstabin Homologue FK506-BP2.Interaction of ions with the luminal sides of wild-type and mutated skeletal muscle ryanodine receptors.Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.
P2860
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P2860
Central core disease is due to RYR1 mutations in more than 90% of patients.
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Central core disease is due to RYR1 mutations in more than 90% of patients.
@ast
Central core disease is due to RYR1 mutations in more than 90% of patients.
@en
Central core disease is due to RYR1 mutations in more than 90% of patients.
@nl
type
label
Central core disease is due to RYR1 mutations in more than 90% of patients.
@ast
Central core disease is due to RYR1 mutations in more than 90% of patients.
@en
Central core disease is due to RYR1 mutations in more than 90% of patients.
@nl
prefLabel
Central core disease is due to RYR1 mutations in more than 90% of patients.
@ast
Central core disease is due to RYR1 mutations in more than 90% of patients.
@en
Central core disease is due to RYR1 mutations in more than 90% of patients.
@nl
P2093
P356
P1433
P1476
Central core disease is due to RYR1 mutations in more than 90% of patients
@en
P2093
Hirosato Kikuchi
Ikuya Nonaka
Kumiko Murayama
M Carlos A Ibarra
May Christine V Malicdan
Satoru Noguchi
Yasuko Ichihara
Yukiko K Hayashi
P304
P356
10.1093/BRAIN/AWL077
P407
P577
2006-04-18T00:00:00Z