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The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent

24 Jul 2019

Abstract excerpt

Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of the closely related SMN2 gene. In addition, an SMN variant lacking exons 7 and 8 has been reported in 8% and 23% of...

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PMID: 31339938
DOI: 10.1371/journal.pone.0220211

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