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Author

Alba Segarra-Casas

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Open access Oct 2026

A Recurrent 3'UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies.

OBJECTIVE A substantial proportion of individuals with suspected genetic conditions, including neuromuscular disorders, lack a definitive molecular diagnosis. Non-coding variants, particularly those in the 3' untranslated region (3´UTR), which regulate mRNA stability, translation, and localization, may underlie part of...

B. Estévez-Arias, Alba Segarra-Casas, P. Seoane et al. · 0 citations

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