RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.
作者： N.C. Voermans , M. Snoeck , H. Jungbluth
DOI: 10.1016/J.NEUROL.2016.07.018
关键词:
摘要: … In our seminal study systematically investigating a possible link between ERM and RYR1 mutations in 2013, RYR1 was sequenced in 39 unrelated families with RM, in whom common …
ru.nl
core.ac.uk
sci-hub.se 参考文章(43)
F. Sanchis-Gomar, H. Pareja-Galeano, M. C. Gomez-Cabrera, J. Candel, G. Lippi, G. L. Salvagno, G. E. Mann, J. Viña, Allopurinol prevents cardiac and skeletal muscle damage in professional soccer players. Scandinavian Journal of Medicine & Science in Sports. ,vol. 25, ,(2015) , 10.1111/SMS.12213
T. Russell, S. Riazi, N. Kraeva, A. C. Steel, L. A. Hawryluck, Ecstacy-induced delayed rhabdomyolysis and neuroleptic malignant syndrome in a patient with a novel variant in the ryanodine receptor type 1 gene Anaesthesia. ,vol. 67, pp. 1021- 1024 ,(2012) , 10.1111/J.1365-2044.2012.07226.X
ROS QUINLIVAN, HEINZ JUNGBLUTH, Myopathic causes of exercise intolerance with rhabdomyolysis Developmental Medicine & Child Neurology. ,vol. 54, pp. 886- 891 ,(2012) , 10.1111/J.1469-8749.2012.04320.X
M. Snoeck, S. Treves, J. P. Molenaar, E. J. Kamsteeg, H. Jungbluth, N. C. Voermans, “Human Stress Syndrome” and the Expanding Spectrum of RYR1-Related Myopathies Cell Biochemistry and Biophysics. ,vol. 74, pp. 85- 87 ,(2016) , 10.1007/S12013-015-0704-7
M. Snoeck, B. G. M. van Engelen, B. Küsters, M. Lammens, R. Meijer, J. P. F. Molenaar, J. Raaphorst, C. C. Verschuuren-Bemelmans, C. S. M. Straathof, L. T. L. Sie, I. F. de Coo, W. L. van der Pol, M. de Visser, H. Scheffer, S. Treves, H. Jungbluth, N. C. Voermans, E.-J. Kamsteeg, RYR1-related myopathies: a wide spectrum of phenotypes throughout life. European Journal of Neurology. ,vol. 22, pp. 1094- 1112 ,(2015) , 10.1111/ENE.12713
J. P. Molenaar, N. C. Voermans, B. J. van Hoeve, E. J. Kamsteeg, L. A. Kluijtmans, B. Kusters, H. J. Jungbluth, B. G. van Engelen, Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene. Internal Medicine Journal. ,vol. 44, pp. 819- 820 ,(2014) , 10.1111/IMJ.12498
Giorgia Melli, Vinay Chaudhry, David R. Cornblath, Rhabdomyolysis: an evaluation of 475 hospitalized patients. Medicine. ,vol. 84, pp. 377- 385 ,(2005) , 10.1097/01.MD.0000188565.48918.41
B. Gener, J. M. Burns, S. Griffin, E. W. Boyer, Administration of ondansetron is associated with lethal outcome. Pediatrics. ,vol. 125, ,(2010) , 10.1542/PEDS.2009-2795
Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper, Margaret Perry, Robert L.L. Smith, Andrew J. Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D. King, Michael A. Farrell, Isabelle Marty, Joel Lunardi, Nicole Monnier, Kathryn N. North, Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion Human Mutation. ,vol. 31, ,(2010) , 10.1002/HUMU.21278
Linda Groom, Sheila M. Muldoon, Zhen Zhi Tang, Barbara W. Brandom, Munkhuu Bayarsaikhan, Saiid Bina, Hee-Suk Lee, Xing Qiu, Nyamkhishig Sambuughin, Robert T. Dirksen, Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families Anesthesiology. ,vol. 115, pp. 938- 945 ,(2011) , 10.1097/ALN.0B013E3182320068