Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy

Rendu J., Brocard J., Denarier E., Monnier N., Pietri-Rouxel F., Beley C., Roux-Buisson N., Gilbert-Dussardier B., Perez M.J., Romero N., Garcia L., Lunardi J., Fauré J., Fourest-Lieuvin A., and Marty I.

Hum Gene Ther. (2013) 24:702-13.