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Article

The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy

20 Dec 2024

Abstract excerpt

The severity of spinal muscular atrophy (SMA) is inversely correlated with the number of survival of motor neuron 2 (SMN2) copies an individual has. This observational, retrospective analysis of natural history data included untreated individuals with a genetic diagnosis of types 1-3 SMA and stratified disease-related characteristics by SMN2 copy number. The outcomes investigated were time to: death, permanent...

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PMID: 39864377
DOI: 10.1016/j.nmd.2024.105270

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