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<i>SMN1</i> and <i>SMN2</i> copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

21 Mar 2015

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is an early-onset motor neuron disease characterized by loss of α-motor neurons and associated muscle atrophy. SMA is caused by deletion or other disabling mutation of survival motor neuron 1 (SMN1). In the human genome, a large duplication of the SMN-containing region gives rise to a second copy of this gene (SMN2) that is distinguishable by a single nucleotide change in...

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PMID: 26247043
DOI: 10.1002/mgg3.141

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