Article
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.
Journal of neuromuscular diseases - 1 Jan 2023
Glascock Jacqueline, Darras Basil T, Crawford Thomas O, Sumner Charlotte J, Kolb Stephen J, DiDonato Christine, Elsheikh Bakri, Howell Kelly, Farwell Wildon, Valente Marta, Petrillo Marco, Tingey Jessica, Jarecki Jill
Abstract excerpt
BACKGROUND: Spinal muscular atrophy (SMA) is caused by bi-allelic, recessive mutations of the survival motor neuron 1 (SMN1) gene and reduced expression levels of the survival motor neuron (SMN) protein. Degeneration of alpha motor neurons in the spinal cord causes progressive skeletal muscle weakness. The wide range of disease severities, variable rates of decline, and heterogenous clinical responses to approved...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.