Work

P536: Newborn screening using CK-MM: Preferences of newborn screening professionals after an initial positive screen for Duchenne muscular dystrophy

Year: 2024

Type: article

Abstract: Duchenne muscular dystrophy (DMD) is a rare, progressive neuromuscular condition caused by pathogenic variants in the dystrophin gene (DMD). Creatine kinase-MM isoform (CK-MM), a biomarker of muscle damage, is typically elevated in individuals with DMD. Newborn screening (NBS) for DMD is under evidence review for the Recommended Uniform Screening Panel (RUSP).

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101435

Authors: Holly Peay, Katerina Kucera, Samantha Scott, Emily Cheves

Institution: RTI International

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200