Treatment with Ataluren in seven brazilian boys with Duchenne muscular dystrofhy (DMD) caused by nonsense mutation: real-world experience

Background: Duchenne muscular dystrophy (DMD) is an inherited genetic disorder caused by a mutation in the dystrophin gene that results progressive skeletal, respiratory and cardiac muscle weakness ultimately leads to loss of ambulation as well heart failure. About 13% DMD cases are point mutations leading premature stop codon (nmDMD). Ataluren was approved Brazil for treatment nmDMD, but both efficacy safety have been previously reported from clinical trials few reports exists about real experience.