Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four <scp><i>SMN2</i></scp> Copies: Are They Really All Stable?

Abstract

Our results expand the existing literature on natural history of 4 SMN2 copies confirming the variability of phenotypes in untreated patients, ranging from type II to type IV and an overall reduction of functional scores with increasing age. ANN NEUROL 2023;94:1126-1135.