An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.
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Publication Details
Output type: Journal article
Author list: Elsheikh, Prior, Zhang, Miller, Kolb, Moore, Bradley, Barohn, Bryan, Gelinas, Iannaccone, Leshner, Mendell, Mendoza, Russman, Smith, King, Kissel
Publisher: Wiley
Publication year: 2009
Journal: Muscle & Nerve (0148-639X)
Volume number: 40
Issue number: 4
Start page: 652
End page: 6
Number of pages: -645
ISSN: 0148-639X
eISSN: 1097-4598
Languages: English-Great Britain (EN-GB)
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Open access status: closed
Abstract
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 muscle strength or pulmonary function testing. Functional scale may be a more discriminating outcome measure for SMA clinical trials.
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