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.
References
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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005