Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein.Resulting from low levels of the Survival of Motor animationbengal.com Neuron (SMN) protein, spinal muscular atrophy manifests mainly as