“Human Stress Syndrome” and the Expanding Spectrum of RYR1-Related Myopathies

Cell Biochemistry and Biophysics

Volumn 74, Issue 1, 2016, Pages 85-87

  Snoeck, M ^a   Treves, S ^b   Molenaar, J P ^c   Kamsteeg, E J ^c   Jungbluth, H ^d,e   Voermans, N C ^c  

^a CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL; COMPLICATION; EXERCISE; GENETICS; HEAT STROKE; HUMAN; MALIGNANT HYPERTHERMIA; MUSCULAR DISEASES; PHYSIOLOGICAL STRESS; PHYSIOLOGY;

ANIMALS; HEAT STROKE; HUMANS; MALIGNANT HYPERTHERMIA; MUSCULAR DISEASES; PHYSICAL EXERTION; STRESS, PHYSIOLOGICAL;

EID: 84961172352     PISSN: 10859195     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12013-015-0704-7     Document Type: Letter

References (5)

1. Zhao, X., Song, Q., & Gao, Y. (2014). Hypothesis: Exertional heat stroke-induced myopathy and genetically inherited malignant hyperthermia represent the same disorder, the human stress syndrome. Cell Biochemistry and Biophysics,70, 1325–1329.
2. Dlamini, N., Voermans, N. C., Lillis, S., Stewart, K., Kamsteeg, E. J., Drost, G., et al. (2013). Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscular Disorders,23, 540–548.
3. Molenaar, J. P., Voermans, N. C., van Hoeve, B. J., Kamsteeg, E. J., Kluijtmans, L. A., Kusters, B., et al. (2014). Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene. Internal Medicine Journal,2014(44), 819–820.
4. Durham, W. J., Aracena-Parks, P., Long, C., Rossi, A. E., Goonasekera, S. A., Boncompagni, S., et al. (2008). RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell,133, 53–65.
5. Forrest, K. M., Foulds, N., Millar, J. S., Sutherland, P. D., Pappachan, V. J., Rachael, M., et al. (2015). RYR1-related malignant hyperthermia with marked cerebellar involvement—a paradigm of heat-induced CNS injury? Neuromuscular Disorders,25(2), 138–140.