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Multicenter Study
. 2007 May;17(5):400-3.
doi: 10.1016/j.nmd.2007.02.006. Epub 2007 Apr 12.

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study

F D Tiziano  1 , E Bertini, S Messina, C Angelozzi, M Pane, A D'Amico, P Alfieri, S Fiori, R Battini, A Berardinelli, P Boffi, C Bruno, C Cini, C Minetti, T Mongini, L Morandi, S Orcesi, M Pelliccioni, A Pini, M Villanova, G Vita, M Locatelli, E Mercuri, C Brahe
Affiliations
Multicenter Study

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study

F D Tiziano et al. Neuromuscul Disord. 2007 May.

Abstract

Previous studies showed that SMN2 copy number correlates inversely with the disease severity. Our aim was to evaluate SMN2 copy numbers and the Hammersmith functional motor scale in 87 patients with SMA II in order to establish whether, within SMAII, the number of copies correlates with the severity of functional impairment. Our results showed a relative variability of functional scores, but a significant correlation between the number of SMN2 genes and the level of function.

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