SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage.

Abstract

Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of infant mortality. Homozygous loss of the gene survival of motor neuron 1 (SMN1) causes the selective degeneration of lower motor neurons and subsequent atrophy of proximal skeletal muscles. The SMN1 protein product, survival of motor neuron (SMN… (More)
DOI: 10.1073/pnas.1613181114

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