Ryanodine receptor type 1 (RYR1) related muscle disorders
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Ryanodine receptor type 1 (RYR1) related muscle disorders. Malignant hyperthermia (MH), Ken Denborough syndrome. Fully referenced neurology checklist.
Major RYR1 related disorders
- Malignant hyperthermia (MH)
- Ken Denborough syndrome
- Rhabdomyolysis-myalgia syndrome
Congenital myopathies
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Late onset myopathies
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References
- Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 2006; 27:977-989.
- Snoeck M, van Engelen BG, Küsters B, et al. RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol 2015; 22:1094-1112.
- McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000; 15:410-417.
- Jurkatt-Rott K, Lerche H, Lehmann-Horn F. Skeletal muscle channelopathies. J Neurol 2002; 249:1493-1502.
- Munhoz RP, Moscovich M, Araujo PD, Tieve HAG. Movement disorders emergencies: a review. Arq Neuropsiquiatr 2012; 70:453-461.
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