Clinical Characteristics, Genotypes, and Treatment Outcomes in 133 Patients With Spinal Muscular Atrophy: A Retrospective Cohort
Nusinersen elicited clinically significant motor improvements across SMA subtypes, demonstrating the strongest functional gains in type I (56.4% CHOP-INTEND improvement). We report for the first time a rare case of SMN1 compound heterozygous double-site mutations (c.884A>T; c.22dup).
Authors
- Liwen Wu (ORCID: https://orcid.org/0000-0003-1031-7899)
- Siyi Gan (ORCID: https://orcid.org/0009-0007-1084-6180)
- Haiyan Yang (ORCID: https://orcid.org/0000-0003-1164-8788)
- Li Xu
Institutions
- Central South University (CN)
- Hunan Children's Hospital (CN)
Publication Details
- Journal
- Acta Paediatrica
- Published
- 2025-08-05
- DOI
- https://doi.org/10.1111/apa.70263
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China