Laura Carrera‐García

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

BACKGROUND: Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot-Marie-Tooth disease type 4J) or skeletal dysplasia (Yunis-Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevale...

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...