The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.

doi:10.1016/j.nmd.2021.02.015

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Article

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy.

Neuromuscular disorders : NMD - 1 Jun 2021

Brogna Claudia, Coratti Giorgia, Rossi Rachele, Neri Marcella, Messina Sonia, Amico Adele D', Bruno Claudio, Lucibello Simona, Vita Gianluca, Berardinelli Angela, Magri Francesca, Ricci Federica, Pedemonte Marina, Mongini Tiziana, Battini Roberta, Bello Luca, Pegoraro Elena, Baranello Giovanni, Politano Luisa, Comi Giacomo P, Sansone Valeria A, Albamonte Emilio, Donati Alice, Bertini Enrico, Goemans Nathalie, Previtali Stefano, Bovis Francesca, Pane Marika, Ferlini Alessandra, Mercuri Eugenio

Abstract excerpt

The aim was to assess 3-year longitudinal data using 6MWT in 26 ambulant boys affected by DMD carrying nonsense mutations and to compare their results to other small mutations. We also wished to establish, within the nonsense mutations group, patterns of change according to several variables. Patients with nonsense mutations were categorized according to the stop codon type newly created by the mutation and also...

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PMID: 33773883
DOI: 10.1016/j.nmd.2021.02.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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