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Home All issues Volume 38 (Decembre 2022) Hors série n° 1 Med Sci (Paris), 38 (2022) 46-48 References
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Issue
Med Sci (Paris)
Volume 38, Decembre 2022
Les Cahiers de Myologie
Page(s) 46 - 48
Section Cas clinique
DOI https://doi.org/10.1051/medsci/2022178
Published online 16 January 2023
  1. Laver DR. Regulation of the RYR channel gating by Ca2+ and Mg2. Biophys Rev 2018 ; 10 : 1087–1095. [CrossRef] [PubMed] [Google Scholar]
  2. Maggi L, Bernasconi P, D’Amico A, et al. Italian recommendations for diagnosis and management of congenital myasthenic syndromes. Neurol Sci 2019 ; 40 : 457–468. [CrossRef] [PubMed] [Google Scholar]
  3. Shaaban S, Ramos-Platt L, Gilles FH, et al. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. JAMA Ophthalmol 2013 ; 131(12):1532–1540. [CrossRef] [PubMed] [Google Scholar]
  4. Monnier N, Krivosic-Horber R, Payen JF, et al. Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology 2002 ; 97 : 1067–1074. [CrossRef] [PubMed] [Google Scholar]
  5. Levano S, Vukcevic M, Singer M, et al. Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat 2009 ; 30 : 590–598. [CrossRef] [PubMed] [Google Scholar]
  6. AlBakri A, Karaoui M, Alkuraya FS, et al. Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations. J AAPOS 2015 ; 19 : 577–579. [CrossRef] [PubMed] [Google Scholar]
  7. Dilaver N, Mazaheri N, Maroofian R, et al. Novel homozygous missense mutation in RYR1 leads to severe congenital ptosis, ophthalmoplegia, and scoliosis in the absence of myopathy. Mol Syndromol 2017 ; 9 : 25–29. [Google Scholar]
  8. Rosenberg H, Pollock N, Schiemann A, et al. Malignant hyperthermia: a review. Orphanet J Rare Dis 2015 ; 10 : 93. [CrossRef] [PubMed] [Google Scholar]
  9. Alkhunaizi E, Shuster S, Shannon P, et al. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Am J Med Genet A 2019 ; 179 : 386–396. [CrossRef] [PubMed] [Google Scholar]
  10. Robb SA, Sewry CA, Dowling JJ, et al. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul Disord 2011 ; 21 : 379–386. [CrossRef] [PubMed] [Google Scholar]
  11. Illingworth MA, Main M, Pitt M, et al. RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. Neuromuscul Disord 2014 ; 24 : 707–712. [CrossRef] [PubMed] [Google Scholar]
  12. Liewluck T, Shen XM, Milone M, et al. Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia. Neuromuscul Disord 2011 ; 21 : 387–395. [CrossRef] [PubMed] [Google Scholar]
  13. Beecroft SJ, Lombard M, Mowat D, et al. Genetics of neuromuscular fetal akinesia in the genomics era. J Med Genet 2018 ; 55 : 505–514. [CrossRef] [PubMed] [Google Scholar]
  14. Colombo I, Scoto M, Manzur AY, et al. Congenital myopathies: Natural history of a large pediatric cohort. Neurology 2015 ; 84 : 28–35. [CrossRef] [PubMed] [Google Scholar]
  15. Lawal TA, Todd JJ, Meilleur KG. Ryanodine Receptor 1-related myopathies: diagnostic and therapeutic approaches. Neurotherapeutics 2018 ; 15 : 885–899. [CrossRef] [PubMed] [Google Scholar]

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