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Article

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

1 Jan 2020

Abstract excerpt

Abstract Clinical severity and treatment response vary significantly between patients with spinal muscular atrophy. The approval of therapies and the emergence of neonatal screening programmes urgently require a more detailed understanding of the genetic variants that underlie this clinical heterogeneity. We systematically investigated genetic variation other than SMN2 copy number in the SMN locus. Data were...

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PMID: 32954327
DOI: 10.1093/braincomms/fcaa075

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