Article
Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy.
Human molecular genetics - 21 Jun 2024
Ma Kai, Zhang Kaihui, Chen Defang, Wang Chuan, Abdalla Mohnad, Zhang Haozheng, Tian Rujin, Liu Yang, Song Li, Zhang Xinyi, Liu Fangfang, Liu Guohua, Wang Dong
Abstract excerpt
Spinal muscular atrophy (SMA), which results from the deletion or/and mutation in the SMN1 gene, is an autosomal recessive neuromuscular disorder that leads to weakness and muscle atrophy. SMN2 is a paralogous gene of SMN1. SMN2 copy number affects the severity of SMA, but its role in patients treated with disease modifying therapies is unclear. The most appropriate individualized treatment for SMA has not yet...
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