期刊
MUSCLE & NERVE
卷 40, 期 4, 页码 652-656出版社
JOHN WILEY & SONS INC
DOI: 10.1002/mus.21350
关键词
SMA; SMN2 copy number; SMAFRS; motor neuron; MVIC
资金
- Fight SMA
- Families of SMA Project Cure
- Miracles for Madison
- Muscular Dystrophy Association
- SMA Study Group.
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
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