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Article

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

23 Apr 2011

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21514828
DOI: 10.1016/j.nmd.2011.03.006

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Related research

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King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) genePMID 21514828Read ↗

King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.Semantic proximity Read ↗

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.Semantic proximity Read ↗

King-Denborough Syndrome-Dysmorphic Features Suggesting Risk of Malignant Hyperthermia.Semantic proximity Read ↗

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Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumSemantic proximity Read ↗

Skeletal Muscle ChannelopathiesSemantic proximity Read ↗

Management and treatment of Andersen-Tawil syndrome (ATS).Semantic proximity Read ↗

Identification of a novel compound heterozygous mutation in RyR1 gene in an Indian family affected with congenital myopathySemantic proximity Read ↗

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.Semantic proximity Read ↗

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.Semantic proximity Read ↗

[The high phenotypic variability of RYR1 gene mutations].Semantic proximity Read ↗

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