Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
about
Central core diseaseSilent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportSingle 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.Two rings of negative charges in the cytosolic vestibule of type-1 ryanodine receptor modulate ion fluxes.Basal 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 RegionCardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels.Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Exon 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.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.A chemical chaperone improves muscle function in mice with a RyR1 mutation.Genetics of neuromuscular disorders.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.Myopathology in congenital myopathies.Clinical utility gene card for: Central core disease.Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ releaseRecessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.Undetected central core disease myopathy in an infant presenting for clubfoot surgery.Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesCorrelation of phenotype with genotype and protein structure in RYR1-related disorders
P2860
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P2860
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@ast
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@en
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@nl
type
label
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@ast
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@en
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@nl
prefLabel
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@ast
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@en
Principal mutation hotspot for ...... brane region of the RYR1 gene.
@nl
P2093
P50
P1476
Principal mutation hotspot for ...... mbrane region of the RYR1 gene
@en
P2093
C R Müller
P304
P356
10.1016/S0960-8966(02)00218-3
P577
2003-02-01T00:00:00Z