Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

• DOI: 10.1371/journal.pone.0218683
• Publication Date: 2019-06-25T17:37:33Z
• Authors: Claudia Brogna; Giorgia Coratti; Marika Pane; Valeria Ricotti; Sonia Messina; Adele D’Amico; Claudio Bruno; Gianluca Vita; Angela Berardinelli; Elena Mazzone; Francesca Magri; Federica Ricci; Tiziana Mongini; Roberta Battini; Luca Bello; Elena Pegoraro; Giovanni Baranello; Stefano C. Previtali; Luisa Politano; Giacomo P. Comi; Valeria A. Sansone; Alice Donati; Enrico Bertini; Francesco Muntoni; Nathalie Goemans; Eugenio Mercuri
• Keywords: Duchenne muscular dystrophy; Male; Science; Walking; Cohort Studies; Dystrophin; 6-MINUTE WALK TEST; 03 medical and health sciences; 0302 clinical medicine; Human genetics; Humans; Longitudinal Studies; Prospective Studies; Child; Sequence Deletion; Science & Technology; DMD, exon skipping , exon 44, exon 45; Duchenne Muscular Dystrophy, Dystrophin, Antisense Oligonucleotide; Q; R; Exons; QUANTIFICATION; Natural history of disease; Child; Child, Preschool; Cohort Studies; Disease Progression; Dystrophin; Exons; Humans; Longitudinal Studies; Male; Muscular Dystrophy, Duchenne; Prospective Studies; Sequence Deletion; Walking; Mutation; Multidisciplinary Sciences; Muscular Dystrophy, Duchenne; Child, Preschool; Mutation; Patient advocacy; Disease Progression; Science & Technology - Other Topics; Medicine; Steroids; Exon skipping; Research Article

The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable skip exons 44, 45, 51 or 53.