Group A | | | | |
Muscle exon/intron 1 junction deletion | High | + | – | 25 |
Muscle exon/intron 1 junction deletion | High | ? | ? | 32 |
Muscle exon 1 3′ splice site point mutation | Normal | + | – | 28 |
Muscle exon 1 3′ splice site point mutation | High | ? | ? | 33 |
Splicing point mutation in intron 1 | High | ? | ? | 33 |
Insertion of L1 element in muscle exon 1 | High | + | ? | 34 |
Insertion of L1 element in muscle exon 1 | High | + | ? | 34 |
Exons 2–7 duplication | High | + | – | 27 |
Exon 9 point mutation | High | + | – | 38 |
Intron 11 deletion | High | + | – | 26 |
Group B | | | | |
Exon 29 point mutation | High | + | + | 39 |
Exon 35 missense mutation | High | ? | ? | 33 |
Exons 45–48 deletion | Normal | ? | ? | 37 |
Exons 45–55 deletion | High | ? | ? | 31 |
Exon 48 deletion | High | ? | ? | 36 |
Exon 48 deletion | Normal | ? | + | 37 |
Exons 48–49 deletion | High | ? | ? | 35 |
Exons 48–51 deletion | High | ? | + | 37 |
Exons 48–53 deletion | Normal | ? | + | 37 |
Exons 49–51 deletion | Normal | + | + | 35 |