King-Denborough syndrome (KDS)
Evidence-based neurology checklist on king-denborough syndrome (kds): Genetics This is caused by mutations in the ryanodine receptor 1 (RYR1) gene The transmission is autosomal dominant Clinical features Dysmorphic features Skeletal features Muscle biopsy: features Anaesthetic management
Genetics
- This is caused by mutations in the ryanodine receptor 1 (RYR1) gene
- The transmission is autosomal dominant
Clinical features
Dysmorphic features
Skeletal features
Muscle biopsy: features
Anaesthetic management
References
- D'Arcy CE, Bjorksten A, Yiu EM, et al. King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. Neurology 2008; 71:776-777.
- Dowling JJ, Lillis S, Amburgey K, et al. King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2011; 21:420-427.
- McPherson EW, Taylor CA Jr. The King syndrome: malignant hyperthermia, myopathy, and multiple anomalies. Am J Med Genet 1981; 8:159-165.
- Reed UC, Resende MB, Ferreira LG, et al. King-Denborough syndrome: report of two Brazilian cases. Arq Neuropsiquiatr 2002; 60:739-741.
- Chitayat D, Hodgkinson KA, Ginsburg O, Dimmick J, Watters GV. King syndrome: a genetically heterogenous phenotype due to congenital myopathies. Am J Med Genet 1992; 43:954-956.
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