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

Francesco Danilo Tiziano, E. Bertini, Enrico Silvio Bertini, S. Messina, C. Angelozzi, Marika Pane, A. D'Amico, P. Alfieri, Simona Fiori, R. Battini, Roberta Battini, A. Berardinelli, P. Boffi, C. Bruno, C. Cini, C. Minetti, T. Mongini, L. Morandi, S. Orcesi, M. PelliccioniA. Pini, M. Villanova, G. Vita, M. Locatelli, Eugenio Maria Mercuri, C. Brahe

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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. © 2007.
Lingua originaleEnglish
pagine (da-a)400-403
Numero di pagine4
RivistaNeuromuscular Disorders
Volume17
DOI
Stato di pubblicazionePubblicato - 2007

Keywords

  • Hammersmith functional motor scale
  • SMA
  • Spinal muscular atrophy
  • SMN2
  • SMN1

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