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Spinal muscular atrophy (SMA) is the most common fatal genetic disorder of infancy with an estimated population carrier frequency of 1:37, an autosomal recessive pattern of inheritance, and an estimated incidence of 1:6,000 to 1:10,000 live births.1 The genomic region on 5q11-q13, in which the causative survival of motor neuron (SMN) gene was identified in 1995, is unusual in that it has undergone a complete inverted duplication, resulting in two copies of each gene contained in the duplication.2 Because this duplication occurred relatively recently in evolution, the two copies of the SMN gene are almost identical in sequence. Mutations in SMN1 are causative for the disease but its nearly identical duplicated version, SMN2, is also capable of making wild-type protein, i.e., its coding region is identical to SMN1. Importantly, a critical C to T base pair change at the SMN2 exon 7 splice donor site leads to exclusion of exon 7; this results in …
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