Lenin Carlos Gabriel-Flores

Miopatía nemalínica pediátrica: desafíos diagnósticos, variabilidad fenotípica y avances en el manejo clínico. Revisión de casos y series de casos

Pediatric nemaline myopathy is the most common non-dystrophic congenital myopathy, yet its clinical and genetic expression varies widely across patients. This study synthesizes the published evidence on clinical manifestations, genetic alterations, and mortality in pediatric patients with this diagnosis, through a syst...