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Author

E. Malfatti

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2 papers indexed here

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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
Case report Open access Aug 2026

Case Report: Pediatric immune-mediated necrotizing myopathies mimicking inherited muscle disorders: clinical, paraclinical, and genetic insights from two cases

Objectives Immune-mediated necrotizing myopathies (IMNMs) are a group of rare acquired myopathies. We describe two pediatric cases presenting with early-onset proximal and axial muscle weakness, rhabdomyolysis, and progressive evolution mimicking limb-girdle muscular dystrophy. Methods This retrospective case series is...

Gianmarco Severa, María Camila Cortés-Rojas, M. Gómez-García de la Banda et al. · 0 citations

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