Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay

• Main Authors: Stuart P. Adams (Author), Emma Gravett (Author), Natalie Kent (Author), Susanne Kricke (Author), Adeboye Ifederu (Author), Mariacristina Scoto (Author), Salma Samsuddin (Author), Francesco Muntoni (Author)
• Format: Book
• Published: MDPI AG, 2021-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Spinal muscular atrophy (SMA) is an autosomal inherited neuromuscular genetic disease caused, in 95% of cases, by homozygous deletions involving the <i>SMN1</i> gene exon 7. It remains the leading cause of death in children under 2 years of age. New treatments have been developed and ado...