93% | SMNT
| Homozygous deletion of exons 7 & 8 |
17 |
5.6% | SMNT
| Homozygous deletion of exon 7 only |
17 |
1 | SMNT
| Missense mutation on codon 245 (P245L) |
35 |
1 | SMNT
| Missense mutation on codon 262 (S262I) |
34 |
1 | SMNT
| Missense mutation on codon 272 (Y272C) |
17 |
1 | SMNT
| Missense mutation on codon 274 (T274I) |
34 |
1 | SMNT
| Missense mutation on codon 275 (G275S) |
32
|
1 | SMNT
| Missense mutation on codon 279 (G279V) |
33 |
1 | SMNT
| 4 bp microdeletion in 5′ splice donor site of intron 7 (921+4del4) |
17
|
1 | SMNT
| 7 bp microdeletion in 3′ splice acceptor site of exon 6 (868−10del7) |
17 |
4 | SMNT
| 4 bp microdeletion on exon 3 (430del4) |
36
|
1 | SMNT
| Compound heterozygote |
37
|
| | 1st copy - 5 bp microdeletion on exon 3 (472del5) | |
| | 2nd copy - deletion | |
1 | SMNT
| Compound heterozygote |
38
|
| | 1st copy - 2 bp microdeletion on exon 2 (542del2) | |
| | 2nd copy - deletion or conversion | |
1 | SMNT
| 11 bp duplication on exon 6 (800ins11) |
39 |
45% of SMA I | NAIP | Homozygous deletion |
18
|
and | | | |
18% of SMA I,II,III | | | |
73% of SMA I | p44T
| Homozygous deletion |
20 |
15% of SMA I,II,III | p44T
| Homozygous deletion | 19 |