Skip to main content
Have a personal or library account? Click to login
Identification of A Novel Mutation in RYR1 Gene in Malignant Hyperthermia-Like Patient's Family Members Cover

Identification of A Novel Mutation in RYR1 Gene in Malignant Hyperthermia-Like Patient's Family Members

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.
Volume 62 (2008): Issue 4-5 (October 2008)
By: ,  ,  ,  ,  ,   and    
Open Access
|Nov 2008
References

References

  1. Allen, G. C., Rosenberg, H., Fletcher, J. E. (1990). Safety of general anesthesia in patients previously tested negative for malignant hyperthermia susceptibility., 72(4), 619-622.
    Open DOISearch in Google Scholar
  2. Bonciu, M., Chapelle, A., Delpech, H., Depret, T., Krivosic-Horber, R., Aime, M. R. (2007). Minor increase of endtidal CO2 during sevoflurane induced malignant hyperthermia., 17, 180-182.
    Open DOISearch in Google Scholar
  3. Cohen, I. T., Kaplan, R. (2006). Repeat episodes of severe muscle rigidity in a child receiving sevoflurane.16(10), 1077-1079.
    Open DOISearch in Google Scholar
  4. Denbrough, M. (1998). Malignant hyperthermia., 352, 1131-1136.
    Open DOISearch in Google Scholar
  5. Denborough, M. A., Lowell, R. H. (1960) Anaesthetic deaths in a family (letter)., 2, 45.
    Open DOISearch in Google Scholar
  6. Greenberg, D. A. (1999)., 22(10), 1341-1349.
    Open DOISearch in Google Scholar
  7. Halsall, P. J., Cain, P. A., Ellis, F. R. (1979). Retrospective analysis of anaesthetics received by patients before susceptibility to malignant hyperpyrexia was recognised., 51, 949-954.
    Open DOISearch in Google Scholar
  8. Islander, G., Ranklev-Twetman, E. (1995). Evaluation of anaesthesias in malignant hyperthermia negative patients., 39(6), 819-821.
    Open DOISearch in Google Scholar
  9. Krause, T., Gerbershagen, M. U., Fiege, M., Weisshorn, R., Wappler, F. (2004). Dantrolene—a review of its pharmacology, therapeutic use and new developments., 59(4), 364-373.
    Open DOISearch in Google Scholar
  10. Larach, M. G., Brandom, B. W., Allen, G. C., Gronert, G. A., Lehman, E. B. (2008). Cardiac arrests and deaths associated with malignant hyperthermia in north america from 1987 to 2006: A report from the north american malignant hyperthermia registry of the malignant hyperthermia association of the United States., 108(4), 603-611.
    Open DOISearch in Google Scholar
  11. Ording, H., Hedengran, A. M., Skovgaard, L. T. (1991). Evaluation of 119 anaesthetics received after investigation for susceptibility to malignant hyperthermia., 35(8), 711-716.
    Open DOISearch in Google Scholar
  12. Ording, H., Brancadoro, V., Cozzolino, S., Ellis, F. R., Glauber, V., Gonano, E. F., Halsall, P. J., Hartung, E., Heffron, J. J., Heytens, L., Kozak-Ribbens, G., Kress, H., Krivosic-Horber, R., Lehmann-Horn, F., Mortier, W., Nivoche, Y., Ranklev-Twetman, E., Sigurdsson, S., Snoeck, M., Stieglitz, P., Tegazzin, V., Urwyler, A., Wappler, F. (1997).contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: Results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group., 41(8), 955-966.
    Open DOISearch in Google Scholar
  13. Rosenberg, H., Davis, M., James, D., Pollock, N., Stwell, K. (2007). Malignant hyperthermia., 24, 2-21.
    Open DOISearch in Google Scholar
  14. Scala, D., Di Martino, A., Cozzolino, S., Mancini, A., Bracco, A., Andria, B., Tammaro, A., Savoia, G. (2006). Follow-up of patients tested for malignant hyperthermia susceptibility., 23(9), 801-805.
    Open DOISearch in Google Scholar
  15. Tammaro, A., Bracco, A., Cozzolino, S., Esposito, M., Di Martino, A., Savoia, G., Zeuli, L., Piluso, G., Aurino, S., Nigro, V. (2003). Scanning for mutations of the ryanodine receptor () gene by denaturing HPLC: Detection of three novel malignant hyperthermia alleles., 49(5), 761-768.
    Open DOISearch in Google Scholar
  16. Urwyler, A., Deufel, T., McCarthy, T., West, S. (2001) Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. European Malignant Hyperthermia Group., 86(2), 283-287.
    Open DOISearch in Google Scholar
  17. Wappler, F. (2001). Malignant hyperthermia., 18, 632-652.
    Open DOISearch in Google Scholar
  18. Wedel, D. J. (1992). Malignant hyperthermia and neuromuscular disease., 2(3), 157-164.
    Open DOISearch in Google Scholar
  19. Wehner, M., Rueffert, H., Koenig, F., Neuhaus, J., Olthoff, D. (2002). Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation., 62(2), 135-146.
    Open DOISearch in Google Scholar
DOI: https://doi.org/10.2478/v10046-008-0025-y | Journal eISSN: 2255-890X (formerly 1407-009X) | Journal ISSN: 1407-009X
Journal RSS Feed
Language: English
Page range: 156 - 161
Published on: Nov 29, 2008
Published by: Latvian Academy of Sciences
In partnership with: Paradigm Publishing Services
Keywords:
malignant hyperthermia,
mutation in RYR1 gene,
IVCT,
anaesthesia,
complications
Related subjects:
Mathematics,
General mathematics

© 2008 Tālis Kauliñš, Natālija Proñina, Henrik Rüffert, Markus Wehner, Māris Mihelsons, Oksana Osipova, Aleksejs Miščuks, published by Latvian Academy of Sciences
This work is licensed under the Creative Commons License.

Volume 62 (2008): Issue 4-5 (October 2008)
Previous article
Next article