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Article

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy

27 Apr 2017

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by reduced expression of survival of motor neuron (SMN), a protein expressed in humans by two paralogous genes, SMN1 and SMN2. These genes are nearly identical, except for 10 single-nucleotide differences and a 5-nucleotide insertion in SMN2. SMA is subdivided into four main types, with type I being the most severe. SMN2 copy number is a key positive...

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PMID: 28460014
DOI: 10.1093/hmg/ddx166

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