Article
An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.
Muscle & nerve - 1 Oct 2009
Elsheikh Bakri, Prior Thomas, Zhang Xiaoli, Miller Robert, Kolb Stephen J, Moore Dan, Bradley Walter, Barohn Richard, Bryan Wilson, Gelinas Deborah, Iannaccone Susan, Leshner Robert, Mendell Jerry R, Mendoza Michelle, Russman Barry, Smith Stephen, King Wendy, Kissel John T
Abstract excerpt
To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies). Patients with 3 copies had an earlier age of onset and lower spinal muscular atrophy functional rating scale (SMAFRS) scores and were more likely to be non-ambulatory. There was, however, no difference between the groups in quantitative...
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