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Article

Discrepancy in redetermination of SMN2 copy numbers in children with SMA

25 Jun 2019

Abstract excerpt

Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with an incidence of about 1:6,000 to 1:10,000 in newborns. The clinical spectrum of severity is broad and ranges from early and severe weakness with respiratory insufficiency (type 1) to milder phenotypes with onset during childhood or adolescence (types 2–3).1 SMA is caused by deletions and less commonly by point...

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PMID: 31235659
DOI: 10.1212/wnl.0000000000007836

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