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Table 1 Clinical characteristics of seven affected in the two CMT2 families

From: Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation

Family

Family 1

Family 2

Individual

II-2

II-3

II-7

III-1

III-4

III-5

II-1

Gender

M

F

M

M

M

F

M

Age at onset

18

7

45

35

36

32

22

Disease duration

44

64

22

15

8

8

32

Age at investigation

72

71

67

50

44

40

54

Muscle wasting1

 Underarm

0

0

0

0

0

0

0

 Hand

2

0

0

0

0

0

2/1

 Thigh

0

0

0

0

0

0

0

 Leg

0

0

1

1

0

0

1

 Feet

2

2

1

1

1

1

2

Muscle weaknessNIS

 Elbow flexion

1

1

0

0

0

0

0

 Wrist extension

1

0

0

0

0

0

0

 Finger flexion

0

0

0

0

0

0

0

 Finger spread

0

0

0

0

0

0

2/1a

 Thumb abduction

3.25/3a

0

0/1a

0

0

0

3.25/1a

 Knee flexion

0

0

0

0

0

0

0

 Knee extension

0

0

0

0

0

0

0

 Ankle dorsiflexors

3

2

3.5

1

1

0

3.25

 Ankle plantar flexors

2

2

3.5

1

0

0

3.25

 Toe extensors

3.75

2/3.25

3.5

3.5

1

0

3,5

 Toe flexors

3.25

2

3.5

1

1

0

3.5

Sensory loss

Touch1

Leg

1

0

0

0

0

0

0

Feet

1

0

0

0

0

0

1

Arm, hand

0

0

0

0

0

0

0

Pain1

Overarm

0

0

0

0

0

0

0

Underarm

0

0

0

0

0

1

0

Hand

0

0

0

0

0

1

1

Thigh

0

0

0

0

0

0

0

Leg

2

0

0

1

1

0

1

Feet

2

0/1a

0

1

1

0

1/2

Vibration1

Hand

2

1

2

0

0

1

0

2. finger

2

1

2

0

0

1

0

Knee

2

2

2

0

1

1

0

Ankle

2

2

2

0/1a

2

1

2

1. metatarsal

2

2

2

2

2

1

2

1.toe

2

2

2

2

2

1

2

Proprioceptive1

Toe

1

0

0

0

0

0

1

Reflexes1

 Biceps

2

2

1

0

0

0

0

 Triceps

0

0

1

0

0

0

0

 Brachioradialis

2

2

1

0

0

0

0

 Patellar

2

2

1

0

2

0

0

 Achilles

2

2

2

2

2

1

2

Romberg1

2

2

2

0

0

0

1

Deformities1

 Pes cavus

2

1

1

1

1

0

1

 Hammertoes

0

1

0

1

0

0

0

 Pes planus

0

0

0

0

0

1

0

 Scoliosis

0

0

0

0

1

1

0

NIS score

66,25

38.25

47

19

20

10

50.5

  1. -, not informative; 10 = normal; 1 = mild/moderate affected; 2 = severely affected
  2. F Female, M Male
  3. aAsymmetrical