Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Nanna WittingP LaforêtN C VoermansN Roux-BuissonF BompaireJ RenduM DunoF FeilletE-J KamsteegN S PoulsenJ R DahlqvistN B RomeroJ FauréJ VissingA Behin

Published in: Acta neurologica Scandinavica (2017)

Mutations in RYR1 should be considered as a significant cause of rhabdomyolysis and myalgia syndrome in patients with the characteristic combination of rhabdomyolysis, myalgia and cramps, creatine kinase elevation, no weakness and often muscle hypertrophy.

Keyphrases

acute kidney injury
skeletal muscle
case report
tyrosine kinase
protein kinase
binding protein