A mutation in the human ryanodine receptor gene associated with central core disease
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Central core diseaseFunctional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscleExclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermiaMalignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscleCritical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and DiseasePerspectives on: SGP symposium on mitochondrial physiology and medicine: molecular identities of mitochondrial Ca2+ influx mechanism: updated passwords for accessing mitochondrial Ca2+-linked health and diseaseSwimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.A genome wide search for susceptibility loci in three European malignant hyperthermia pedigreesIdentification of hyperreactive cysteines within ryanodine receptor type 1 by mass spectrometry.Ion channel genes and human neurological disease: recent progress, prospects, and challenges.Diagnosis of malignant hyperthermia: a comparison of the in vitro contracture test with the molecular genetic diagnosis in a large pedigree.Investigation of muscle disease.Genetics and pathogenesis of malignant hyperthermia.Ryanodine receptor mutations in malignant hyperthermia and central core disease.Ryanodine receptors: structure, expression, molecular details, and function in calcium release.RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.An integrated diagnosis strategy for congenital myopathies.Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.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.Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia familiesMapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1.Stressed out: the skeletal muscle ryanodine receptor as a target of stressFunctional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptorNovel 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 recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathyRyanodine receptor-mediated arrhythmias and sudden cardiac death.Tissue specificity in the nuclear envelope supports its functional complexity.Endoplasmic-reticulum calcium depletion and disease.Genetics of neuromuscular disorders.Ryanodine receptors: structure and function.Themes and variations in ER/SR calcium release channels: structure and function.Zebrafish muscular disease models towards drug discovery.
P2860
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P2860
A mutation in the human ryanodine receptor gene associated with central core disease
description
article
@en
im September 1993 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 1993
@uk
ലേഖനം
@ml
name
A mutation in the human ryanodine receptor gene associated with central core disease
@en
A mutation in the human ryanodine receptor gene associated with central core disease
@nl
type
label
A mutation in the human ryanodine receptor gene associated with central core disease
@en
A mutation in the human ryanodine receptor gene associated with central core disease
@nl
prefLabel
A mutation in the human ryanodine receptor gene associated with central core disease
@en
A mutation in the human ryanodine receptor gene associated with central core disease
@nl
P2093
P2860
P356
P1433
P1476
A mutation in the human ryanodine receptor gene associated with central core disease
@en
P2093
A K Browell
D H MacLennan
K Schappert
M S Phillips
V K Khanna
P2860
P2888
P356
10.1038/NG0993-46
P407
P577
1993-09-01T00:00:00Z
P6179
1052218764