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SMN2 deletion in childhood-onset spinal muscular atrophy

โœ Scribed by Cobben, J.M. ;de Visser, M.

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
28 KB
Volume
109
Category
Article
ISSN
0148-7299

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Srivistava et al. [2001] described a 5-year-old boy with delayed motor development, hypotonia, wasting, and weakness. The age of onset was approximately 9-10 months. Cognitive development was normal, and his muscle weakness was predominantly distal. He was born to non-consanguineous parents and ther