Ryanodine receptor type 1 (RYR1) related muscle disorders

Evidence-based neurology checklist on ryanodine receptor type 1 (ryr1) related muscle disorders: Major RYR1 related disorders Malignant hyperthermia (MH) Ken Denborough syndrome Rhabdomyolysis-myalgia syndrome Congenital myopathies Late onset myopathies

Major RYR1 related disorders

  • Malignant hyperthermia (MH)
  • Ken Denborough syndrome
  • Rhabdomyolysis-myalgia syndrome

Congenital myopathies

Late onset myopathies

References

  1. 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. 
  2. 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. 
  3. McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000; 15:410-417. 
  4. Jurkatt-Rott K, Lerche H, Lehmann-Horn F. Skeletal muscle channelopathies. J Neurol 2002; 249:1493-1502.
  5. Munhoz RP, Moscovich M, Araujo PD, Tieve HAG. Movement disorders emergencies: a review. Arq Neuropsiquiatr 2012; 70:453-461.
  6. And 20 more. Subscribe to see the full list

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