Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
about
Central core diseaseCharacterization of the molecular architecture of human caveolin-3 and interaction with the skeletal muscle ryanodine receptorCentral core disease: clinical, pathological, and genetic featuresCongenital myopathies: diseases of the actin cytoskeleton.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 reportFunctional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutantsNovel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Multi-minicore DiseaseExon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.Genotype-phenotype correlations in recessive RYR1-related myopathies.Ryanodine receptor-mediated arrhythmias and sudden cardiac death.RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.Core myopathies and malignant hyperthermia susceptibility: a review.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: Central core disease.Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations.Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.Excitation-Contraction Coupling Alterations in Myopathies.Antibody probe study of Ca2+ channel regulation by interdomain interaction within the ryanodine receptor.Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.Comparative analysis of in vitro contracture tests with ryanodine and a combination of ryanodine with either halothane or caffeine: a comparative investigation in malignant hyperthermia.Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
P2860
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P2860
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Familial and sporadic forms of ...... tal muscle ryanodine receptor.
@en
Familial and sporadic forms of ...... tal muscle ryanodine receptor.
@nl
type
label
Familial and sporadic forms of ...... tal muscle ryanodine receptor.
@en
Familial and sporadic forms of ...... tal muscle ryanodine receptor.
@nl
prefLabel
Familial and sporadic forms of ...... tal muscle ryanodine receptor.
@en
Familial and sporadic forms of ...... tal muscle ryanodine receptor.
@nl
P2093
P356
P1476
Familial and sporadic forms of ...... tal muscle ryanodine receptor.
@en
P2093
Landrieu P
P304
P356
10.1093/HMG/10.22.2581
P577
2001-10-01T00:00:00Z