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The c.859G>C variant in the <i>SMN2</i> gene is associated with types II and III SMA and originates from a common ancestor

24 Jun 2010

Abstract excerpt

Homozygous mutations of the telomeric SMN1 gene lead to degeneration of motor neurons causing spinal muscular atrophy (SMA). A highly similar centromeric gene (SMN2) can only partially compensate for SMN1 deficiency. The c.859G>C variant in SMN2 has been recently reported as a positive disease modifier. We identified the variant in 10 unrelated chronic SMA patients with a wide spectrum of phenotypes ranging from...

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Identifiers

PMID: 20577007
DOI: 10.1136/jmg.2010.079004

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The c.859G>C variant in the <i>SMN2</i> gene is associated with types II and III SMA and originates from a common ancestorPMID 20577007Read ↗

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