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- Lauren E Potts, Jason J Longwell, Peter Bedocs, Nyamkhishig Sambuughin, Saiid Bina, Patrick B Cooper, Craig G Carroll, Francis O'Connor, Patricia Deuster, Sheila M Muldoon, Susan Hamilton, and John F Capacchione.
- From the *Department of Anesthesiology, Walter Reed National Military Medical Center, Bethesda; †DVCIPM, Rockville; ‡Department of Anesthesiology, Uniformed Services University of the Health Sciences; Departments of §Neurosurgery and ‖Neurology, Walter Reed National Military Medical Center, Bethesda, Maryland; ¶Department of Military Medicine, Uniformed Services University of the Health Sciences; and **Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.
- A A Case Rep. 2014 Jul 15; 3 (2): 23-6.
AbstractA 30-year-old man developed unexplained rhabdomyolysis, persistently increased creatine kinase and severe debilitating muscle cramps. After a nondiagnostic neurologic evaluation, he was referred for a muscle biopsy, to include histology/histochemistry, a myoglobinuria panel, and a caffeine halothane contracture test. Only the caffeine halothane contracture test was positive, and a subsequent ryanodine receptor type 1 gene evaluation revealed a mutation functionally causative for malignant hyperthermia. His identical twin brother, who was suffering from similar complaints, was found to share the same mutation. They each require oral dantrolene therapy to control symptoms, despite difficulty in identifying health care providers familiar with treating this disorder.
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