OMIA 000621-9986 : Malignant hyperthermia in Oryctolagus cuniculus
In other species: domestic cat , cattle , dog , horse , pig , deer , turkey Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 145600 (trait) , 180901 (gene) Mendelian trait/disorder: unknown Considered a defect: yes Cross-species summary: A progressive increase in body temperature, muscle rigidity and metabolic acidosis, leading to rapid death.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2001||Du, G.G., Oyamada, H., Khanna, V.K., MacLennan, D.H. :|
|Mutations to Gly(2370), Gly(2373) or Gly(2375) in malignant hyperthermia domain 2 decrease caffeine and cresol sensitivity of the rabbit skeletal-muscle Ca2+ -release channel (ryanodine receptor isoform 1) Biochemical Journal 360:97-105, 2001. Pubmed reference: 11695996.|
|1997||Ahern, G.P., Junankar, P.R., Dulhunty, A.F. :|
|Ryanodine receptors from rabbit skeletal muscle are reversibly activated by rapamycin Neuroscience Letters 225:81-84, 1997. Pubmed reference: 9147379.|
|1992||Joffe, M., Savage, N., Silove, M. :|
|The Biochemistry of Malignant Hyperthermia - Recent Concepts International Journal of Biochemistry 24:387-398, 1992. Pubmed reference: 1312953.|
- Created by Frank Nicholas on 06 Sep 2005