Article
Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study.
Muscle & nerve - 1 Jan 2022
Trucco Federica, Ridout Deborah, Domingos Joana, Maresh Kate, Chesshyre Mary, Munot Pinki, Sarkozy Anna, Robb Stephanie, Quinlivan Rosaline, Riley Mollie, Wallis Colin, Chan Elaine, Abel Francois, De Lucia Silvana, Hogrel Jean-Yves, Niks Erik H, de Groot Imelda, Servais Laurent, Straub Volker, Ricotti Valeria, Manzur Adnan, Muntoni Francesco
Abstract excerpt
INTRODUCTION/AIMS: Mutations amenable to skipping of specific exons have been associated with different motor progression in Duchenne muscular dystrophy (DMD). Less is known about their association with long-term respiratory function. In this study we investigated the features of respiratory progression in four DMD genotypes relevant in ongoing exon-skipping therapeutic strategies. METHODS: This was a...
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