Article
An observational study of functional abilities in infants, children, and adults with type 1 SMA.
Neurology - 21 Aug 2018
Pane Marika, Palermo Concetta, Messina Sonia, Sansone Valeria A, Bruno Claudio, Catteruccia Michela, Sframeli Maria, Albamonte Emilio, Pedemonte Marina, D'Amico Adele, Brigati Giorgia, de Sanctis Roberto, Coratti Giorgia, Lucibello Simona, Bertini Enrico, Vita Giuseppe, Danilo Tiziano Francesco, Mercuri Eugenio
Abstract excerpt
OBJECTIVE: To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. METHODS: We included 122 patients, of age ranging between 3 months and 22 years, 1 month. More than 70% (85/122) were older than 2 years and 25% (31/122) older than 10 years. Patients were classified according to the severity of phenotype and to the number of SMN2 copies. RESULTS:...
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