Article
[Natural history of spinal muscular atrophy type I].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2024
Vlodavets D V, Linkova Yu N, Zinkina-Orikhan A V, Morozova M A, Fokina E A, Saulina A V, Nikiforova A N
Abstract excerpt
Spinal muscular atrophy (SMA) is a group of genetically heterogeneous neuromuscular diseases characterized by the progressive loss of motor neurons in the anterior horns of the spinal cord. The prevalence of SMA is approximately 1 in 10.000 live births. The cause of SMA is a mutation in the SMN1 gene, which encodes a neuronal survival protein. The phenotype of the disease depends on the number of copies of the...
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