AN ANALYSIS OF DISEASE SEVERITY BASED ON SMN2 COPY NUMBER IN ADULTS WITH SPINAL MUSCULAR ATROPHY

作者：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

来源：Muscle & Nerve, 2009, 40(4): 652-656.

DOI：10.1002/mus.21350

• SMA
• SMN2 copy number
• SMAFRS
• motor neuron
• MVIC

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. Muscle Nerve 40: 652-656, 2009

• 出版日期2009-10