Ontology highlight
ABSTRACT:
SUBMITTER: Messina S
PROVIDER: S-EPMC7408870 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Messina Sonia S Sframeli Maria M
Journal of clinical medicine 20200713 7
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability. The disorder is caused by mutations in the survival motor neuron 1 (<i>SMN1</i>) gene and a consequent decrease in the <i>SMN</i> protein leading to lower motor neuron degeneration. Recently, Food and Drug Administration (FDA) and European Medical Agency (EMA) approved the antisense oligonucleotide nusinersen, the f ...[more]