Abstract
About 95% of patients with Spinal Muscular Atrophy (SMA) have a homozygous deletion of exon 7 of SMN1. About 2-5% of patients with SMA may be compound heterozygous for a deleterious single nucleotide variant (SNV) affecting one allele and a deletion affecting the other allele. Here, we present a rare case of an infant with SMA Type 0 with a single homozygous, previously reported, likely pathogenic NM_000344.4(SMN1):c.796T>C variant affecting both copies of SMN1.
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