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| Mutation | Total (n=33) | Type 1 (n=15) | Type 2 (n=16) | Type 3 (n=2) |
|---|---|---|---|---|
| Exon 7 deletion | 2 (6%) | 0 | 2 (12.5%) | 0 |
| Exon 7/8 deletion, heterozygote | 1 (3%) | 1 (7%) | 0 | 0 |
| Exon 7/8 deletion, homozygote | 24 (73%) | 8 (53%) | 14 (87.5%) | 2 (100%) |
| Exon 7/8 deletion, homozygote+NAIP deletions | 6 (18%) | 6 (40%) | 0 | 0 |
Data are n (%) values.
NAIP: neuronal apoptosis inhibitory protein, SMA: spinal muscular atrophy.
