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Published in 2019 at "Neurology"
DOI: 10.1212/wnl.0000000000007836
Abstract: 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…
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Keywords:
discrepancy redetermination;
smn protein;
copy;
smn2 copy ... See more keywords