Clarke, Nigel F., Waddell, Leigh B., Guglieri, Michela, King, Mary D., Farrell, Michael A., Marty, Isabelle, Lunardi, Joel, Monnier, Nicole, North, Kathryn N., Cooper, Sandra T., Perry, Margaret, Smith, Robert L. L., Kornberg, Andrew J., Muntoni, Francesco, Lillis, Suzanne, Straub, Volker, Bushby, Kate. John Wiley & Sons; 2010. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.