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1986 1
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Page 1
Malignant Hyperthermia.
Kaur H, Katyal N, Yelam A, Kumar K, Srivastava H, Govindarajan R. Kaur H, et al. Mo Med. 2019 Mar-Apr;116(2):154-159. Mo Med. 2019. PMID: 31040503 Free PMC article. Review.
This review also aims to highlight the genetics and pathology of MH, along with its association with various inherited myopathy syndromes like central core disease, multi-mini core disease, Native-American myopathy, and King-Denborough syndrome....
This review also aims to highlight the genetics and pathology of MH, along with its association with various inherited myopathy syndromes li …
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Lawal TA, Todd JJ, Meilleur KG. Lawal TA, et al. Neurotherapeutics. 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1. Neurotherapeutics. 2018. PMID: 30406384 Free PMC article. Review.
A range of RYR1-RM clinical phenotypes has also emerged more recently and includes King Denborough syndrome, RYR1 rhabdomyolysis-myalgia syndrome, atypical periodic paralysis, congenital neuromuscular disease with uniform type 1 fibers, and late-onset axial m …
A range of RYR1-RM clinical phenotypes has also emerged more recently and includes King Denborough syndrome, RYR1 rhabd …
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Lawal TA, et al. Skelet Muscle. 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. Skelet Muscle. 2020. PMID: 33190635 Free PMC article. Review.
As additional phenotypes were associated with RYR1 variations (including King-Denborough syndrome, exercise-induced rhabdomyolysis, lethal multiple pterygium syndrome, adult-onset distal myopathy, atypical periodic paralysis with or without myalgia, mild calf …
As additional phenotypes were associated with RYR1 variations (including King-Denborough syndrome, exercise-induced rha …
Pancreatitis in RYR1-related disorders.
Famili DT, Mistry A, Gerasimenko O, Gerasimenko J, Tribe RM, Kyrana E, Dhawan A, Goldberg MF, Voermans N, Willis T, Jungbluth H. Famili DT, et al. Neuromuscul Disord. 2023 Oct;33(10):769-775. doi: 10.1016/j.nmd.2023.09.003. Epub 2023 Sep 16. Neuromuscul Disord. 2023. PMID: 37783627 Free article.
Here, we report three patients with a diagnosis of Central Core Disease (CCD), King-Denborough Syndrome (KDS) and Malignant Hyperthermia Susceptibility (MHS), respectively, who in addition to their (putative) RYR1-related disorder also developed symptoms and …
Here, we report three patients with a diagnosis of Central Core Disease (CCD), King-Denborough Syndrome (KDS) and Malig …
King-Denborough syndrome: contracture testing and literature review.
Heiman-Patterson TD, Rosenberg HR, Binning CP, Tahmoush AJ. Heiman-Patterson TD, et al. Pediatr Neurol. 1986 May-Jun;2(3):175-7. doi: 10.1016/0887-8994(86)90013-5. Pediatr Neurol. 1986. PMID: 2907859 Review.
The King-Denborough syndrome (KDS) is characterized by dysmorphic features, myopathy, and malignant hyperthermia (MH). ...
The King-Denborough syndrome (KDS) is characterized by dysmorphic features, myopathy, and malignant hyperthermia (MH). …
Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report.
Joseph MR, Theroux MC, Mooney JJ, Falitz S, Brandom BW, Byler DL. Joseph MR, et al. A A Case Rep. 2017 Feb 1;8(3):55-57. doi: 10.1213/XAA.0000000000000421. A A Case Rep. 2017. PMID: 27918309
Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup diagnosed the child with King-Denborough syndrome (KDS). This particular mutation has never been d …
Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, …
Anesthetic management of a ventilator-dependent parturient with the King-Denborough syndrome.
Habib AS, Millar S, Deballi P 3rd, Muir HA. Habib AS, et al. Can J Anaesth. 2003 Jun-Jul;50(6):589-92. doi: 10.1007/BF03018646. Can J Anaesth. 2003. PMID: 12826552
PURPOSE: The King-Denborough syndrome (KDS) is a rare disorder that is associated with myopathy, susceptibility to malignant hyperthermia (MH) as well as congenital skeletal and facial anomalies. ...
PURPOSE: The King-Denborough syndrome (KDS) is a rare disorder that is associated with myopathy, susceptibility to mali …
King-Denborough Syndrome: report of two Brazilian cases.
Reed UC, Resende MB, Ferreira LG, Carvalho MS, Diament A, Scaff M, Marie SK. Reed UC, et al. Arq Neuropsiquiatr. 2002 Sep;60(3-B):739-41. doi: 10.1590/s0004-282x2002000500011. Arq Neuropsiquiatr. 2002. PMID: 12364941 Free article.
These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia....
These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing t …
Halothane-caffeine contracture testing in neuromuscular diseases.
Heiman-Patterson TD, Rosenberg H, Fletcher JE, Tahmoush AJ. Heiman-Patterson TD, et al. Muscle Nerve. 1988 May;11(5):453-7. doi: 10.1002/mus.880110507. Muscle Nerve. 1988. PMID: 3374516
These disorders include central core disease, Duchenne muscular dystrophy, myotonia congenita, myotonic dystrophy, nonspecific myopathies, and King-Denborough syndrome. In order to assess the anesthetic risk of MH in the neuromuscular population, we performed …
These disorders include central core disease, Duchenne muscular dystrophy, myotonia congenita, myotonic dystrophy, nonspecific myopathies, a …