Spinal muscular atrophy: state-of-the-art and therapeutic perspectives.

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans caused by degeneration of alpha motor neurons in the anterior horns of the spinal cord. This affects voluntary movements, leading to muscle weakness and atrophy. SMA is caused by homozygous deletions/mutations in the survival motor neuron gene 1 (SMN1). The severity of the phenotype is modulated by the copy number of SMN2...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cyclic AMP Response Element-Binding Protein
• Share to Genetic Therapy