Ana Töpf

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...