Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Claudia BrognaGiorgia CorattiMarika PaneValeria RicottiSonia MessinaAdele D'AmicoClaudio BrunoGianluca VitaAngela BerardinelliElena MazzoneFrancesca MagriFederica RicciTiziana MonginiRoberta BattiniLuca BelloElena PegoraroGiovanni BaranelloStefano C PrevitaliLuisa PolitanoGiacomo P ComiValeria A SansoneAlice DonatiEnrico Silvio BertiniFrancesco MuntoniNathalie GoemansEugenio Mercurinull nullPublished in: PloS one (2019)
Our results confirm that the progression of disease can differ between patients with different deletions, although the changes only become significant from 24 months onwards. This information is relevant because there are current clinical trials specifically targeting patients with these subgroups of mutations.