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Cynthia Gagnon

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Open access Oct 2026

Three-Year Longitudinal Analysis of Splicing Changes in Myotonic Dystrophy Type 1

Myotonic dystrophy type 1 (DM1) is caused by a CTG expansion in the 3′ untranslated region of the DMPK gene that results in the expression of expanded CUG RNA which trap splicing factors resulting in widespread alternative splicing dysregulation. A panel of these splicing events, or splicing index (SI), is currently us...

C. Légaré, Lori Planco, Robert Merritt et al. · 0 citations

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