메뉴 건너뛰기




Volumn 11, Issue 3, 2009, Pages 142-143

Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature

Author keywords

Autopsy; Genetic analysis; Heat stroke; Infant; Temperature

Indexed keywords

RYANODINE RECEPTOR 1; RYANODINE RECEPTOR;

EID: 63249092411     PISSN: 13446223     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.legalmed.2008.12.004     Document Type: Article
Times cited : (25)

References (13)
  • 1
    • 0032480548 scopus 로고    scopus 로고
    • Malignant hyperthermia
    • Denborough M. Malignant hyperthermia. Lancet 352 (1998) 1131-1136
    • (1998) Lancet , vol.352 , pp. 1131-1136
    • Denborough, M.1
  • 2
    • 0035103613 scopus 로고    scopus 로고
    • Malignant hyperthermia
    • Kozack J.K., and MacIntyre D.L. Malignant hyperthermia. Phys Ther 81 (2001) 945-951
    • (2001) Phys Ther , vol.81 , pp. 945-951
    • Kozack, J.K.1    MacIntyre, D.L.2
  • 3
    • 33744959480 scopus 로고    scopus 로고
    • Malignant hyperthermia in Japan. Mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing
    • Ibara C.A., Wu S., Murayama K., Mimami M., Ichihara Y., Kikuchi H., et al. Malignant hyperthermia in Japan. Mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing. Anesthesiology 104 (2006) 1146-1154
    • (2006) Anesthesiology , vol.104 , pp. 1146-1154
    • Ibara, C.A.1    Wu, S.2    Murayama, K.3    Mimami, M.4    Ichihara, Y.5    Kikuchi, H.6
  • 4
    • 0036788917 scopus 로고    scopus 로고
    • Ryanodine receptor calcium release channels
    • Fill M., and Copello J.A. Ryanodine receptor calcium release channels. Physiol Rev 282 (2002) 893-922
    • (2002) Physiol Rev , vol.282 , pp. 893-922
    • Fill, M.1    Copello, J.A.2
  • 5
    • 0036625926 scopus 로고    scopus 로고
    • Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulating proteins
    • Nelson T.E. Malignant hyperthermia: a pharmacogenetic disease of Ca++ regulating proteins. Curr Mol Med 2 (2002) 347-369
    • (2002) Curr Mol Med , vol.2 , pp. 347-369
    • Nelson, T.E.1
  • 6
    • 0020475977 scopus 로고
    • Heat stroke and malignant hyperpyrexia
    • Denborough M.A. Heat stroke and malignant hyperpyrexia. Med J Aust i (1982) 204-205
    • (1982) Med J Aust , vol.i , pp. 204-205
    • Denborough, M.A.1
  • 8
    • 0027250785 scopus 로고
    • Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
    • Quane K.A., Healy J.M.S., Keating K.E., Manning B.M., Couch F.J., Palmucci L.M., et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 5 (1993) 51-55
    • (1993) Nat Genet , vol.5 , pp. 51-55
    • Quane, K.A.1    Healy, J.M.S.2    Keating, K.E.3    Manning, B.M.4    Couch, F.J.5    Palmucci, L.M.6
  • 9
    • 23744481030 scopus 로고    scopus 로고
    • Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
    • Treves S., Anderson A.A., Ducreux S., Divet A., Bleunven C., Grasso C., et al. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord 15 (2005) 577-587
    • (2005) Neuromuscul Disord , vol.15 , pp. 577-587
    • Treves, S.1    Anderson, A.A.2    Ducreux, S.3    Divet, A.4    Bleunven, C.5    Grasso, C.6
  • 11
    • 0035960887 scopus 로고    scopus 로고
    • Diagnosis of heat stroke in forensic medicine. Contribution of thermophysiology
    • Schuliar Y., Savourey G., Besnard Y., and Launey J.C. Diagnosis of heat stroke in forensic medicine. Contribution of thermophysiology. Forensic Sci Int 124 (2001) 205-208
    • (2001) Forensic Sci Int , vol.124 , pp. 205-208
    • Schuliar, Y.1    Savourey, G.2    Besnard, Y.3    Launey, J.C.4
  • 12
    • 0020118814 scopus 로고
    • Dantrolene in human malignant hyperthermia
    • Kolb M.S., Horne M.L., and Martz R. Dantrolene in human malignant hyperthermia. Anesthesiology 56 (1982) 254-262
    • (1982) Anesthesiology , vol.56 , pp. 254-262
    • Kolb, M.S.1    Horne, M.L.2    Martz, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.