A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy
Ital J Pediatr. 2025 Jul 8;51(1):214. doi: 10.1186/s13052-025-02058-9. ABSTRACT BACKGROUND: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder caused …