Intragenic variants in the survival motor neuron 1 gene determine spinal muscular atrophy phenotype


  • Prevalence of compound heterozygous individuals with spinal muscular atrophy in the Brazilian population is higher than previously recognized.

Why this matters

    This study included the largest cohort of Latin Americans with spinal muscular atrophy. The findings implicate a specific point mutation spectrum in the Brazilian population and this discovery may enable earlier diagnoses and therapeutic interventions.