nstd238 (OuYang et al. 2024)
- Organism:
- Human
- Study Type:
- Case-Set
- Submitter:
- Yujin Qu
- Description:
- The association between biomarkers, phenotypes, and motor milestones were assessed in Chinese SMA patients. Four biomarkers, survival motor neuron 2 (SMN2) copies, neuronal apoptosis inhibitory protein (NAIP) copies, full-length SMN2 (fl-SMN2), and F-actin bundling protein plastin 3 (PLS3) transcript levels were included and their relationships with disease severity and progression were investigated. All four biomarkers were found to correlate with the disease severity and the fl-SMN2 transcript level elevated with an increase in SMN2 copies. An association was observed between motor milestone degeneration/and the SMN2 copies, NAIP copies, and fl-SMN2 level. See Variant Summary counts for nstd238 in dbVar Variant Summary.