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SMN2-deletion in childhood-onset spinal muscular atrophy

โœ Scribed by Srivastava, Sandhya ;Mukherjee, Monisha ;Panigrahi, Inusha ;Shanker Pandey, Gouri ;Pradhan, Sunil ;Mittal, Balraj


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
124 KB
Volume
101
Category
Article
ISSN
0148-7299

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Comment onSMN2 deletion in childhood-ons
โœ Ogino, Shuji ;Van Deerlin, Vivianna M.D. ;Wilson, Robert B. ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 34 KB

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