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Fatigue leads to gait changes in spinal muscular atrophy

โœ Scribed by Jacqueline Montes; Sally Dunaway; Megan J. Montgomery; Douglas Sproule; Petra Kaufmann; Darryl C. De Vivo; Ashwini K. Rao


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
163 KB
Volume
43
Category
Article
ISSN
0148-639X

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Deletion and conversion in spinal muscul
โœ Christine J. Didonato; Susan E. Ingraham; Jerry R. Mendell; Thomas W. Prior; Sha ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 787 KB

The spinal muscular atrophy-determining gene, survival motor neuron (SMN), is present in two copies, telSMN and cenSMN, which can be distinguished by base-pair changes in exons 7 and 8. The telSMN gene is often absent in spinal muscular atrophy patients, which could be due to deletion or sequence co