A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
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Central core diseaseSwimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.Triadin (Trisk 95) overexpression blocks excitation-contraction coupling in rat skeletal myotubesAn Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse lineIdentical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.An integrated diagnosis strategy for congenital myopathies.Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases.Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.Network Analysis for the Identification of Differentially Expressed Hub Genes Using Myogenin Knock-down Muscle Satellite Cells.Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresA Systems Biology Comparison of Ovarian Cancers Implicates Putative Somatic Driver Mutations through Protein-Protein Interaction Models.Cardiac 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.Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.Multi-minicore DiseaseA truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.Genotype-phenotype correlations in recessive RYR1-related myopathies.RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.The power of the zebrafish for disease analysis.Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsCongenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Tissue specificity in the nuclear envelope supports its functional complexity.Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.Zebrafish muscular disease models towards drug discovery.Role of pseudoexons and pseudointrons in human cancer.Phosphoinositides in Ca(2+) signaling and excitation-contraction coupling in skeletal muscle: an old player and newcomers.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Deep intronic mutations and human disease.Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.Clinical utility gene card for: Multi-minicore 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+ releaseExcitation-Contraction Coupling Alterations in Myopathies.
P2860
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P2860
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
A homozygous splicing mutation ...... myopathy with ophthalmoplegia.
@en
A homozygous splicing mutation ...... myopathy with ophthalmoplegia.
@nl
type
label
A homozygous splicing mutation ...... myopathy with ophthalmoplegia.
@en
A homozygous splicing mutation ...... myopathy with ophthalmoplegia.
@nl
prefLabel
A homozygous splicing mutation ...... myopathy with ophthalmoplegia.
@en
A homozygous splicing mutation ...... myopathy with ophthalmoplegia.
@nl
P2093
P356
P1476
A homozygous splicing mutation ...... myopathy with ophthalmoplegia.
@en
P2093
Ana Ferreiro
Annick Labarre-Vila
Isabelle Marty
Joel Lunardi
Nicole Monnier
Paulette Mezin
P304
P356
10.1093/HMG/DDG121
P577
2003-05-01T00:00:00Z