Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1–3
Our findings suggest that SMN2 copies contribute to survival and that <i>fl</i>-SMN2 may serve as a valuable biomarker for phenotypic variability in SMA Type 2 subtypes. These insights can guide future research and clinical management of SMA.
Authors
- Yu-wei Jin (ORCID: https://orcid.org/0009-0004-1665-6669)
- Jinli Bai
- Yu-jin Qu (ORCID: https://orcid.org/0000-0003-2959-3754)
- Shijia Ouyang
- Fang Song
- Xiaoyin Peng
- Wen‐Chen Huang (ORCID: https://orcid.org/0000-0001-5796-3498)
- Hong Wang (ORCID: https://orcid.org/0000-0002-8379-0284)
- Maoti Wei (ORCID: https://orcid.org/0000-0003-1203-0437)
- Xiushan Ge
- Hui Jiao
Institutions
- TEDA International Cardiovascular Hospital (CN)
- Capital Institute of Pediatrics (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2024-09-02
- DOI
- https://doi.org/10.3389/fneur.2024.1382410
- Citations
- 4
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.75
Funders
- National Key Research and Development Program of China