DYSF pseudoexon 44.1 is the transcript endpoint
PMID 42446943 identifies DYSF c.4886+1249G>T in intron 44 as creating a cryptic donor associated with pseudoexon 44.1 inclusion. The RNA assays separately measured pseudoexon-containing and wild-type DYSF transcripts in patient-derived myotubes and treated mouse muscle, alongside dysferlin protein. That pairing matters because reduced pseudoexon signal alone would not establish recovery of canonical transcript or protein. Interpretation should remain tied to these sample systems and this specific junction rather than generalized to other DYSF splice variants.
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