Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH (November 1991). "A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia". Genomics. 11 (3): 751–5. doi:10.1016/0888-7543(91)90084-R. PMID1774074.
The R1086C mutant has never been published, but has nevertheless been referenced multiple times in the literature, e.g. Jurkat-Rott K, McCarthy T, Lehmann-Horn F (January 2000). "Genetics and pathogenesis of malignant hyperthermia". Muscle & Nerve. 23 (1): 4–17. doi:10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO;2-D. PMID10590402. S2CID17516858.
Weiss RG, O'Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT (October 2004). "Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling". American Journal of Physiology. Cell Physiology. 287 (4): C1094–102. doi:10.1152/ajpcell.00173.2004. PMID15201141. S2CID18219662.
J Fujii; K Otsu; F Zorzato; S de Leon; VK Khanna; JE Weiler; PJ O'Brien; DH MacLennan (1991). "Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia". Science. 253 (5018): 448–451. Bibcode:1991Sci...253..448F. doi:10.1126/science.1862346. PMID1862346.
Yang T, Riehl J, Esteve E, Matthaei KI, Goth S, Allen PD, Pessah IN, Lopez JR (December 2006). "Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse". Anesthesiology. 105 (6): 1164–75. doi:10.1097/00000542-200612000-00016. hdl:1885/19871. PMID17122579. S2CID25219587.
Schuster F, Gardill A, Metterlein T, Kranke P, Roewer N, Anetseder M (September 2007). "A minimally invasive metabolic test with intramuscular injection of halothane 5 and 6 vol% to detect probands at risk for malignant hyperthermia". Anaesthesia. 62 (9): 882–7. doi:10.1111/j.1365-2044.2007.05173.x. PMID17697213. S2CID26200473.
Anetseder M, Hager M, Müller CR, Roewer N (May 2002). "Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test". Lancet. 359 (9317): 1579–80. doi:10.1016/S0140-6736(02)08506-9. PMID12047971. S2CID46160746.
Dexter F, Rosenberg H, Epstein RH, Semo JJ, Litman RS (2015). "Implications of National Anesthesia Workload on the Staffing of a Call Center: The Malignant Hyperthermia Consultant Hotline". A&A Case Reports. 5 (3): 43–6. doi:10.1213/XAA.0000000000000147. PMID26230307.
Yang T, Riehl J, Esteve E, Matthaei KI, Goth S, Allen PD, Pessah IN, Lopez JR (December 2006). "Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse". Anesthesiology. 105 (6): 1164–75. doi:10.1097/00000542-200612000-00016. hdl:1885/19871. PMID17122579. S2CID25219587.
J Fujii; K Otsu; F Zorzato; S de Leon; VK Khanna; JE Weiler; PJ O'Brien; DH MacLennan (1991). "Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia". Science. 253 (5018): 448–451. Bibcode:1991Sci...253..448F. doi:10.1126/science.1862346. PMID1862346.
Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Rosenberg H, Sambuughin N, Riazi S, Dirksen R (2013). "Malignant Hyperthermia Susceptibility". GeneReviews. PMID20301325.
Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH (November 1991). "A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia". Genomics. 11 (3): 751–5. doi:10.1016/0888-7543(91)90084-R. PMID1774074.
The R1086C mutant has never been published, but has nevertheless been referenced multiple times in the literature, e.g. Jurkat-Rott K, McCarthy T, Lehmann-Horn F (January 2000). "Genetics and pathogenesis of malignant hyperthermia". Muscle & Nerve. 23 (1): 4–17. doi:10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO;2-D. PMID10590402. S2CID17516858.
Weiss RG, O'Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT (October 2004). "Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling". American Journal of Physiology. Cell Physiology. 287 (4): C1094–102. doi:10.1152/ajpcell.00173.2004. PMID15201141. S2CID18219662.
J Fujii; K Otsu; F Zorzato; S de Leon; VK Khanna; JE Weiler; PJ O'Brien; DH MacLennan (1991). "Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia". Science. 253 (5018): 448–451. Bibcode:1991Sci...253..448F. doi:10.1126/science.1862346. PMID1862346.
Yang T, Riehl J, Esteve E, Matthaei KI, Goth S, Allen PD, Pessah IN, Lopez JR (December 2006). "Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse". Anesthesiology. 105 (6): 1164–75. doi:10.1097/00000542-200612000-00016. hdl:1885/19871. PMID17122579. S2CID25219587.
Schuster F, Gardill A, Metterlein T, Kranke P, Roewer N, Anetseder M (September 2007). "A minimally invasive metabolic test with intramuscular injection of halothane 5 and 6 vol% to detect probands at risk for malignant hyperthermia". Anaesthesia. 62 (9): 882–7. doi:10.1111/j.1365-2044.2007.05173.x. PMID17697213. S2CID26200473.
Anetseder M, Hager M, Müller CR, Roewer N (May 2002). "Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test". Lancet. 359 (9317): 1579–80. doi:10.1016/S0140-6736(02)08506-9. PMID12047971. S2CID46160746.
Dexter F, Rosenberg H, Epstein RH, Semo JJ, Litman RS (2015). "Implications of National Anesthesia Workload on the Staffing of a Call Center: The Malignant Hyperthermia Consultant Hotline". A&A Case Reports. 5 (3): 43–6. doi:10.1213/XAA.0000000000000147. PMID26230307.
The R1086C mutant has never been published, but has nevertheless been referenced multiple times in the literature, e.g. Jurkat-Rott K, McCarthy T, Lehmann-Horn F (January 2000). "Genetics and pathogenesis of malignant hyperthermia". Muscle & Nerve. 23 (1): 4–17. doi:10.1002/(SICI)1097-4598(200001)23:1<4::AID-MUS3>3.0.CO;2-D. PMID10590402. S2CID17516858.
Weiss RG, O'Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT (October 2004). "Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling". American Journal of Physiology. Cell Physiology. 287 (4): C1094–102. doi:10.1152/ajpcell.00173.2004. PMID15201141. S2CID18219662.
Yang T, Riehl J, Esteve E, Matthaei KI, Goth S, Allen PD, Pessah IN, Lopez JR (December 2006). "Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse". Anesthesiology. 105 (6): 1164–75. doi:10.1097/00000542-200612000-00016. hdl:1885/19871. PMID17122579. S2CID25219587.
Schuster F, Gardill A, Metterlein T, Kranke P, Roewer N, Anetseder M (September 2007). "A minimally invasive metabolic test with intramuscular injection of halothane 5 and 6 vol% to detect probands at risk for malignant hyperthermia". Anaesthesia. 62 (9): 882–7. doi:10.1111/j.1365-2044.2007.05173.x. PMID17697213. S2CID26200473.
Anetseder M, Hager M, Müller CR, Roewer N (May 2002). "Diagnosis of susceptibility to malignant hyperthermia by use of a metabolic test". Lancet. 359 (9317): 1579–80. doi:10.1016/S0140-6736(02)08506-9. PMID12047971. S2CID46160746.