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spinal muscular atrophy type II


Definition: a form intermediate in severity between the infantile form (SMA type I) and the juvenile form (SMA type III); characterized by proximal muscle weakness with onset usually between 3 and 15 months of age and survival until adolescence; autosomal recessive inheritance, caused by mutation in the SMN1 gene on 5q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.