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In this article, Schorling et al.1 report SMN2 copy number in 20 patients with spinal muscular atrophy (SMA) using multiplex ligation-dependent probe amplification (MLPA) methodology and found discrepant results in… Click to show full abstract
In this article, Schorling et al.1 report SMN2 copy number in 20 patients with spinal muscular atrophy (SMA) using multiplex ligation-dependent probe amplification (MLPA) methodology and found discrepant results in 9 patients. While it has long been understood that SMA phenotype is modified, in part, by the SMN2 copy number, it is also known that the correlation is not absolute.2 Furthermore, the influence of SMN2 copy number in patients with pathogenic variants, and therefore retaining one SMN1 allele, has yet to be determined.
Journal Title: Neurology
Year Published: 2019
Link to full text (if available)
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