Summary of dysferlin gene mutations of patients in this study
| Patient | Sex | Age (years) | Disease duration (years) | Exon | Nucleotide change | Protein change | State |
|---|---|---|---|---|---|---|---|
| Dys48-1 | M | 54 | 23 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys58-1 | F | 51 | 8 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys64-1 | M | 58 | 19 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys93-1 | F | 57 | 17 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys99-1 | F | 55 | 11 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys106-1 | F | 22 | 3 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys113-1 | M | 57 | 17 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys123-1 | F | 59 | 25 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys133-1 | M | 66 | 8 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys170-1 | F | 38 | 7 | 28 | c.2997G>T | p.Trp999Cys | Homozygous |
| Dys13-1 | M | 43 | 29 | 28 34 | c.2997G>T c.3771G>A | p.Trp999Cys p.Trp1257X | Compound heterozygous |
| Dys55-1 | F | 47 | 22 | 28 37 | c.2997G>T c.3959_3960insA | p.Trp999Cys p.Met1320IlefsX26 | Compound heterozygous |
| Dys114-1 | M | 50 | 15 | Intron 25 28 | c.2643+1G>A c.2997G>T | Splice site p.Trp999Cys | Compound heterozygous |
| Dys120-1 | M | 55 | 25 | 18 28 | c.1566C>G c.2997G>T | p.Tyr522X p.Trp999Cys | Compound heterozygous |
| Dys124-1 | F | 36 | 12 | 18 28 | c.1566C>G c.2997G>T | p.Tyr522X p.Trp999Cys | Compound heterozygous |
| Dys127-1 | F | 56 | 23 | 18 28 | c.1566C>G c.2997G>T | p.Tyr522X p.Trp999Cys | Compound heterozygous |
| 4 | M | 75 | 49 | Intron 25 41 | c.2643+1G>A c.4497delT | Splice site p.Phe1499LeufsX4 | Compound heterozygous |
| 5 | M | Died at 59 | Died at 42 | 21 | c.1958delG | p.Gly653ValfsX3 | Homozygous |
| 15 | F | 50 | 34 | 37 | c.3959_3960insA | p.Met1320IlefsX26 | Homozygous |
| 39 | F | 74 | 52 | Intron 25 | c.2643+1G>A | Splice site | Homozygous |
| 44 | M | 41 | 14 | 29 41 | c.3112C>T c.4497delT | p.Arg1038X p.Phe1499LeufsX4 | Compound heterozygous |
| 47 | M | 55 | 37 | 37 | c.3959_3960insA | p.Met1320IlefsX26 | Homozygous |
| Dys37-1 | M | 60 | 40 | Intron 10 | c.937+1G>A | Splice site | Homozygous |
| Dys37-2 | F | 51 | 24 | Sister of Dys37-1 | |||
| Dys43-1 | F | 36 | 19 | 18 | c.1566C>G | p.Tyr522X | Homozygous |
| Dys43-2 | F | 35 | 21 | Sister of Dys43-1 | |||
| Dys46-1 | F | 67 | 48 | 41 | c.4497delT | p.Phe1499LeufsX4 | Homozygous |
| Dys50-2 | M | 70 | 29 | 41 | c.4497delT | p.Phe1499LeufsX4 | Homozygous |
| Dys59-1 | F | 49 | 27 | 28 | c.2974T>C | p.Trp992Arg | Homozygous |
| Dys61-1 | F | 43 | 21 | 41 | c.4497delT | p.Phe1499LeufsX4 | Homozygous |
| Dys78-1 | F | 54 | 30 | Intron 10 | c.937+1G>A | Splice site | Homozygous |
| Dys84-1 | F | 64 | 45 | 14 | c.1321C>T | p.Gln441X | Homozygous |
| Dys84-2 | M | 52 | 32 | Brother of Dys84-1 | |||
| Dys89-1 | F | 68 | 40 | 18 28 | c.1566C>G c.2974T>C | p.Tyr522X p.Trp992Arg | Compound heterozygous |
| Dys117-1 | M | 32 | 9 | 18 | c.1566C>G | p.Tyr522X | Homozygous |
| Dys117-2 | M | 30 | 16 | Brother of Dys117-1 | |||
| Dys126-1 | M | 23 | 2 | Intron 4 54 | c.342+1G>A c.6135G>A | Splice site p.Trp2045X | Compound heterozygous |
| Dys145-1 | F | 27 | 10 | 6 | c.610C>T | p.Arg204X | Homozygous |
| Dys146-1 | F | 58 | 34 | 31 Intron 43 | c.3373delG c.4794+1G>A | p.Glu1125LysfsX9 splice site | Compound heterozygous |
| Dys163-1 | M | 36 | 11 | 6 | c.493delC | p.Leu165SerfsX48 | Homozygous |