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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 …
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.
Illingworth MA, Main M, Pitt M, Feng L, Sewry CA, Gunny R, Vorstman E, Beeson D, Manzur A, Muntoni F, Robb SA. Illingworth MA, et al. Neuromuscul Disord. 2014 Aug;24(8):707-12. doi: 10.1016/j.nmd.2014.05.003. Epub 2014 May 23. Neuromuscul Disord. 2014. PMID: 24951453
The spectrum of RYR1 mutation associated disease encompasses congenital myopathies, exercise induced rhabdomyolysis, malignant hyperthermia susceptibility and King-Denborough syndrome. We report the clinical phenotype of two siblings who presented in i …
The spectrum of RYR1 mutation associated disease encompasses congenital myopathies, exercise induced rhabdomyolysis, malignant hyperthermia …