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Author

B. Estévez-Arias

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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
Open access Aug 2026

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.

D. Muhmann, G. Haliloglu, M. A. Grimalt et al. · 0 citations

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