Table 1

Phenotypic characteristics of patients with titin p.Gly30150Asp and p.Cys30071Arg mutations
Family, Country Family A Family B Family C
U.S., European ancestry Canada, East Indian Spain
TTN Mutation p.Gly30150Asp p.Cys30071Arg
Patient (II:3) (II:4) (II:6) (III:1) (III:3) (Index) (Index)
Age at onset 29 17 22 13 14 22 36
Age at exam 37 33 29 14 14 26 41
Age at wheelchair 38 - 31 - - 32 -
Age at respiratory failure 39 - 37 - - 26 37
Muscles affected at presentation Proximal LL Neck, proximal LL Proximal LL Proximal LL Neck, Proximal LL UL, distal and proximal LL Proximal LL
Facial muscles 5 5 5 5 5 5 5
Neck flexion 4 4+ 4+ 4+ 5- 5 4
Neck extension 4 5 5 5 5 5 5
Shoulder abduction 4 5 3- 5 5- 4 5
Shoulder adduction 5 4+ 4 5 5- 4 5
Elbow flexion 5- 5 5 5 5 5 5
Elbow extension 4+ 5 4 5 5 4 5
Wrist flexion 4+ 5 4 5 5 4 5
Wrist extension 4+ 5 4 5 5 4 4
Finger flexion 4+ 5 4 5 5 5 5
Finger extension 4+ 5 4 4+ 5 4+ 4
Intrinsic hand muscles 4+ 5 4+ 5 5 4+ 5
Hip flexion 3- 4+ 3- 4 5- 2 3
Hip abduction 4 4 3- 5 5 3 4+
Knee flexion (hamstrings) 4 4+ 2 5 5 4 5
Knee extension (quadriceps) 4 4+ 3- 5 5 2 4
Ankle dorsiflexion (anterior tibialis) 4 4+ 2 4+ 4+ 3 4
Ankle plantar flexion (gastrocnemius) 4+ 4+ 2+ 5 5 5 5
Toe dorsiflexion 4 4+ 2 4+ 5 3 2
Toe plantar flexion 4+ 4+ 4+ 5 5 5 5
Gait while ambulant Waddling Waddling Waddling, steppage Normal Normal Steppage Waddling, steppage
Wasted muscles Sterno-mastoid, trapezius Sterno-mastoid, trapezius Sterno-mastoid, trapezius none none none none
Bilateral calf hypertrophy yes yes yes yes no yes no
Pulmonary function restriction normal restriction normal normal Severe restriction Severe restriction
Dyspnea yes no yes no no yes yes
Cardiomyopathy no no no no no no no
CK levels nt nt 2-fold-increased nt normal Mildly-increased 2-fold-increased
EMG - Myogenic with spontaneous activity nt nt yes nt nt yes yes

LL – lower limbs; nt – not tested.

Toro et al.

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

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