Advanced genetic testing helped clinicians identify novel SMN1 mutations in two children in China, and correctly diagnose ...

Muscle fibers in children with SMA type 1 show substantial differences in components of the myosin protein called heavy ...

Infants with spinal muscular atrophy (SMA) who are presymptomatic and given the gene therapy Zolgensma in the first six weeks of life have better motor, respiratory, and nutritional outcomes, ...