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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| Hlavní autoři: | , , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley
2025-12-01
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| Edice: | Journal of Cachexia, Sarcopenia and Muscle |
| Témata: | |
| On-line přístup: | https://doi.org/10.1002/jcsm.70112 |
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