Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.

doi:10.1002/ana.26461

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Article

Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.

Annals of neurology - 1 Nov 2022

Poyatos-García Javier, Martí Pilar, Liquori Alessandro, Muelas Nuria, Pitarch Inmaculada, Martinez-Dolz Luis, Rodríguez Benjamin, Gonzalez-Quereda Lidia, Damiá Maria, Aller Elena, Selva-Gimenez Marta, Vilchez Roger, Diaz-Manera Jordi, Alonso-Pérez Jorge, Barcena José Eulalio, Jauregui Amaia, Gámez Josep, Aladrén Jesus Angel, Fernández Ariadna, Montolio Marisol, Azorin Inmaculada, Hervas David, Casasús Ana, Nieto Marisa, Gallano Pia, Sevilla Teresa, Vilchez Juan Jesus

Abstract excerpt

OBJECTIVE: Duchenne muscular dystrophy (DMD) exon 45-55 deletion (del45-55) has been postulated as a model that could treat up to 60% of DMD patients, but the associated clinical variability and complications require clarification. We aimed to understand the phenotypes and potential modifying factors of this dystrophinopathy subset. METHODS: This cross-sectional, multicenter cohort study applied clinical and...

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PMID: 35897138
DOI: 10.1002/ana.26461
PMCID: PMC9825930

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