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Article

Clinical Characteristics, Genotypes, and Treatment Outcomes in 133 Patients With Spinal Muscular Atrophy: A Retrospective Cohort.

Acta paediatrica (Oslo, Norway : 1992) - 1 Dec 2025

Gan Siyi, Xu Li, Yang Haiyan, Wu Liwen

Abstract excerpt

AIM: To characterise spinal muscular atrophy (SMA) phenotypes, genetic profiles, and nusinersen efficacy in China. METHODS: In 133 SMA patients (age 6.38 ± 3.66 years), SMN1 mutations and SMN2 copy numbers were analysed by MLPA and sequencing. Motor function was longitudinally assessed using subtype-specific scales (CHOP-INTEND/HFMSE/RULM/6MWT) at baseline, 6, and 12 months post-nusinersen. RESULTS: Cohort...

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Identifiers

PMID: 40762286
DOI: 10.1111/apa.70263

Genes

SMN1
SMN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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