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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 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.
Footnotes
Disclosure: Bo Hoon Lee receives research support from Sanofi Genzyme. Go to Neurology.org/N for full disclosures.
Clinical/Scientific Note page 267
- © 2019 American Academy of Neurology
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