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Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1

ABSTRACT Background Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in DMPK mRNAs leads to the sequestration of R...

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Váldodahkkit: Caroline Hermitte, Hortense deCalbiac, Gilles Moulay, Antoine Mérien, Jeanne Lainé, Hélène Polvèche, Michel Cailleret, Stéphane Vassilopoulos, Edor Kabashi, Denis Furling, Cécile Martinat, Morgan Gazzola
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Wiley 2025-12-01
Ráidu:Journal of Cachexia, Sarcopenia and Muscle
Fáttát:
Liŋkkat:https://doi.org/10.1002/jcsm.70112
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