Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

Abstract excerpt

Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13. Recent developments in next generation sequencing technologies, however, have unveiled a growing number of...

Topics

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

• Share to Neurogenetic and Muscular Disorders Research
• Share to RNA modifications and cancer
• Share to RNA Research and Splicing