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Table 1 Phenotypic characteristics of patients with titin p.Gly30150Asp and p.Cys30071Arg mutations

From: Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

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

  1. LL – lower limbs; nt – not tested.