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
TTN mutation (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
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
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

AD – autosomal dominant; Nr – not reported.

Toro et al.

Toro et al. BMC Neurology 2013 13:29   doi:10.1186/1471-2377-13-29

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