A Gene, A Breakthrough, A Challenge: Lessons From the History of Spinal Muscular Atrophy
Published online on June 13, 2026
Abstract
Journal of Child Neurology, Ahead of Print.
The discovery of theSMN1gene on chromosome 5q in 1995, and later, identification ofSMN2as a modifier gene was the breakthrough in the history of spinal muscular atrophy (SMA). It was the discovery of this gene that led to the discovery of 3 disease-...
The discovery of theSMN1gene on chromosome 5q in 1995, and later, identification ofSMN2as a modifier gene was the breakthrough in the history of spinal muscular atrophy (SMA). It was the discovery of this gene that led to the discovery of 3 disease-...