Table 4 Comparative clinical characteristics of reported patients with confirmed titin mutations
Reference | Edström et al. 1990 | Ohlsson et al. 2012 | Pfeffer et al. 2012 | This report | This report |
|---|---|---|---|---|---|
TTNmutation (TTN domain) | p.Arg32450Trp (kinase domain) | p.Cys30071Arg (A-band) | p.Cys30071Arg (A-band) | p.Gly30150Asp (A-band) | p.Cys30071Arg (A-band) |
Inheritance pattern | AD | AD | AD | AD | AD |
Country | Sweden | Sweden | Britain | U.S. | Spain/Canada |
No. of studied patients | 7 | 8 | 22 | 5 | 2 |
Onset age, mean (range), yrs | 24.8 | 28.8 | 44.6 | 19 | 29 |
(14–40) | (18–40) | (22–71) | (13–29) | (22–36) | |
Gender (woman/man) | 5/2 | 5/3 | 12/10 | (0/5) | 2/0 |
Distribution of muscle weakness | Â | Â | Â | Â | Â |
Pelvic girdle | 7/7 | 8/8 | 15/21 | 5/5 | 2/2 |
Shoulder girdle | 7/7 | 4/7 | 10/22 | 3/5 | 1/2 |
Neck flexors | 7/7 | 8/8 | 7/22 | 5/5 | 2/2 |
Trunk muscles | Nr | 8/8 | Nr | 3/5 | 1/2 |
Knee flexors | Nr | 7/8 | 7/22 | 3/5 | 1/2 |
Knee extensors | Nr | 2/8 | 6/22 | 3/5 | 2/2 |
Ankle dorsiflexors | 2/7 | 7/8 | 17/22 | 5/5 | 2/2 |
Plantar flexors | Nr | 1/8 | 5/22 | 3/5 | 0/2 |
Finger extensors | 4/7 | 1/8 | 4/22 | 3/5 | 2/2 |
Finger flexors | Nr | 1/8 | 3/22 | 2/5 | 0/2 |
Respiratory failure | 7/7 | 8/8 | 12/22 | 2/5 | 2/2 |
Mildly elevated CK | 1/7 | 1/1 | 11/19 | 1/1 | 2/2 |
Myopathic EMG | 7/7 | 1/1 | 11/18 | 1/1 | 2/2 |
Outcome | Â | Â | Â | Â | Â |
Wheelchair dependency | Nr | 1/8 | 2/22 | 2/5 | 1/2 |
Ventilation dependency | 4/7 | 4/8 | 6/22 | 2/5 | 2/2 |
Death before age 65 | Nr | 1/1 | Nr | 2/2 | 1/1 |