Articles with "splicing sorbs1" as a keyword



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

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Published in 2025 at "Journal of Cachexia, Sarcopenia and Muscle"

DOI: 10.1002/jcsm.70112

Abstract: 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… read more here.

Keywords: splicing sorbs1; dystrophy type; alternative splicing; myotonic dystrophy ... See more keywords