Open access
Aug 2026
A Single-Tube Nested PCR Method for SMN1 Deletion Detection in Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disorder caused predominantly by homozygous deletion of SMN1, resulting in degeneration of lower motor neurons and progressive muscle weakness and atrophy. In recent years, newborn screening programs for SMA using dried blood spots and PCR-based...
Ayano Kosaka, Makoto Sakima, Yoriko Noguchi et al.
· Methods and Protocols · 0 citations